Syndromic Immunodeficiencies: Genetic Syndromes Associated with Immune Abnormalities

REFERENCES

• Ming JE, Stiehm ER, Graham JM Jr. Syndromes associated with immunodeficiency. Adv Pediatr 1999; 46: 271–351.
   Google Scholar
• OMIM: Online Mendelian Inheritance in Man, OMIMTM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim
   Google Scholar
• van den Berg H, Wage K, Burggraaf JD, et al. Malignant B-cell lymphoma in an infant with severe combined immunodeficiency with short-limbed skeletal dysplasia. Acta Paediatr 1997; 86: 778–780.
   Google Scholar
• Gatti RA, Platt N, Pomerance HH, et al. Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. J Pediatr 1969; 75: 675–684.
   PubMedGoogle Scholar
• Gotoff SP, Esterly NB, Gottbrath E, et al. Granulomatous reaction in an infant with combined immunodeficiency disease and short-limbed dwarfism. J Pediatr 1972; 80: 1010–1017.
   Google Scholar
• Schofer O,Blaha I,Mannhardt W,etal.Omenn phenotype withshort-limbed dwarfism. J Pediatr 1991; 118: 86–89.
   Google Scholar
• McKusick V, Eldridge R, Hostetler J, et al. Dwarfism in the Amish: II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 1965; 116: 285–326.
   Google Scholar
• Makitie O, Pukkala E, Teppo L, et al. Increased incidence of cancer in patients with cartilage-hair hypoplasia. J Pediatr 1999; 134: 315–318.
   PubMedGoogle Scholar
• Makitie O, Kaitila I. Cartilage-hair hypoplasia-clinical manifestations in 108 Finnish patients. Eur J Pediatr 1993; 152: 211–217.
   Google Scholar
• Makitie O, Sulisalo T, de la Chapelle A, et al. Cartilage-hair hypoplasia. J Med Genet 1995; 32: 39–43.
   PubMedGoogle Scholar
• Makitie O, Kaitila I, Savilahti E. Deficiency of humoral immunity in cartilage-hair hypoplasia. J Pediatr 2000; 137: 487–492.
   Google Scholar
• Ridanpaa M, van Eenennaam H, Pelin K, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 2001; 104: 195–203.
   PubMed Web of Science ®Google Scholar
• Bonafe L, Schmitt K, Eich G, et al. RMRP gene sequence analysis confirms a cartilage-hair hy-poplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 2002; 61: 146–151.
   Google Scholar
• Ammann AJ, Sutliff W, Millinchick E. Antibody-mediated immunodeficiency in short-limbed dwarfism. J Pediatr 1974; 84: 200–203.
   Google Scholar
• Saraiva JM, Dinis A, Resende C, et al. Schimke immuno-osseous dysplasia: case report and review of 25 patients. J Med Genet 1999; 36: 786–789.
   Google Scholar
• Boerkoel CF, O’Neill S, Andre JL, et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000; 159: 1–7.
   PubMed Web of Science ®Google Scholar
• Boerkoel CF, Takashima H, John J, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 2002; 30: 215–220.
   PubMed Web of Science ®Google Scholar
• Spranger J, Hinkel GK, Stoss H, et al. Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediatr 1991; 119: 64–72.
   PubMed Web of Science ®Google Scholar
• Ludman MD, Cole DE, Crocker JF, et al. Schimke immuno-osseous dysplasia: case report and review. Am J Med Genet 1993; 47: 793–796.
   Google Scholar
• Roifman CM. Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome. Clin Genet 1999; 55: 103–109.
   Google Scholar
• Robertson SP, Rodda C, Bankier A. Hypogonadotrophic hypogonadism in Roifman syndrome. Clin Genet 2000; 57: 435–438.
   Google Scholar
• Sabry MA, Zaki M, Abul Hassan SJ, et al. Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet 1998; 35: 31–36.
   Google Scholar
• Bergada I, Schiffrin A, Abu Srair H, et al. Kenny syndrome: description of additional abnormalities and molecular studies. Hum Genet 1988; 80: 39–42.
   Google Scholar
• Parvari R, Hershkovitz E, Grossman N, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002; 32: 448–452.
   PubMedGoogle Scholar
• Braegger C, Bottani A, Halle F, et al. Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies. J Med Genet 1991; 28: 56–59.
   Google Scholar
• MacDermot KD, Winter RM, Wigglesworth JS, et al. Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review. J Med Genet 1991; 28: 10–17.
   Google Scholar
• Castriota-Scanderbeg A, Mingarelli R, Caramia G, et al. Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia. J Med Genet 1997; 34: 854–856.
   Google Scholar
• Ramanan AV,Hussain K,Hird M,etal. Short limbed skeletal dysplasia associated withcombined immunodeficiency and congenital subglottic stenosis: a new constellation of features. Clin Dysmorphol 2000; 9: 173–176.
   Google Scholar
• Fleisher TA, White RM, Broder S, et al. X-linked hypogammaglobulinemia and isolated growth hormone deficiency. N Engl J Med 1980; 302: 1429–1434.
   PubMed Web of Science ®Google Scholar
• Duriez B, Duquesnoy P, Dastot F, et al. An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett 1994; 346: 165–170.
   Google Scholar
• Abo K, Nishio H, Lee MJ, et al. A novel single basepair insertion in exon 6 of the Bruton’s tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency. Hum Mutat 1998; 11: 336.
   Google Scholar
• Stewart DM, Notarangelo LD, Kurman CC, et al. Molecular genetic analysis of X-linked hy-pogammaglobulinemia and isolated growth hormone deficiency. J Immunol 1995; 155: 2770–2774.
   Google Scholar
• Tang ML, Kemp AS. Growth hormone deficiency and combined immunodeficiency. Arch Dis Child 1993; 68: 231–232.
   Google Scholar
• Maghnie M, Monafo V, Marseglia GL, et al. Immunodeficiency, growth hormone deficiency and central nervous system involvement in a girl. Thymus 1992; 20: 69–76.
   Google Scholar
• Kiess W, Malozowski S, Gelato M, et al. Lymphocyte subset distribution and natural killer activity in growth hormone deficiency before and during short-term treatment with growth hormone releasing hormone. Clin Immunol Immunopathol 1988; 48: 85–94.
   Google Scholar
• Ohzeki T, Hanaki K, Motozumi H, et al. Immunodeficiency with increased immunoglobulin M associated with growth hormone insufficiency. Acta Paediatr 1993; 82: 620–623.
   Google Scholar
• Church JA, Costin G, Brooks J. Immune functions in children treated with biosynthetic growth hormone. J Pediatr 1989; 115: 420–423.
   Google Scholar
• Spadoni GL, Rossi P, Ragno W, et al. Immune function in growth hormone-deficient children treated with biosynthetic growth hormone. Acta Paediatr Scand 1991; 80: 75–79.
   Google Scholar
• Mulvihill JJ, Smith DW. Another disorder with prenatal shortness of stature and premature aging. Birth Defects Orig Artic Ser 1975; 11: 368–370.
   PubMedGoogle Scholar
• de Silva DC, Wheatley DN, Herriot R, et al. Mulvihill-Smith progeria-like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities. Am J Med Genet 1997; 69: 56–64.
   Google Scholar
• Ohashi H, Tsukahara M, Murano I, et al. Premature aging and immunodeficiency: Mulvihill-Smith syndrome? Am J Med Genet 1993; 45: 597–600.
   Google Scholar
• Bartsch O, Tympner KD, Schwinger E, et al. Mulvihill-Smith syndrome: case report and review. J Med Genet 1994; 31: 707–711.
   Google Scholar
• Pagon RA, Graham JM, Zonana J, et al. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981; 99: 223–227.
   PubMed Web of Science ®Google Scholar
• Tellier AL, Cormier-DaireV,AbadieV,et al. CHARGE syndrome: reportof47cases and review. Am J Med Genet 1998; 76: 402–409.
   PubMed Web of Science ®Google Scholar
• Graham JM. A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. Am J Med Genet 2001; 99: 120–123.
   PubMed Web of Science ®Google Scholar
• Blake KD, Davenport SL, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998; 37: 159–173.
   PubMed Web of Science ®Google Scholar
• Tellier AL, Amiel J, Delezoide AL, et al. Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. Am J Med Genet 2000; 93: 85–88.
   PubMedGoogle Scholar
• Siebert JR, Graham JM, MacDonaldC.Pathologic featuresofthe CHARGE association: support for involvement of the neural crest. Teratology 1985; 31: 331–336.
   PubMedGoogle Scholar
• de Lonlay-Debeney P, Cormier-Daire V, Amiel J, et al. Features of DiGeorge syndrome and CHARGE association in five patients. J Med Genet 1997; 34: 986–989.
   Google Scholar
• Boudny P, Kurrer MO, Stamm B, et al. Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and CHARGE association. Pathol Res Pract 2000; 196: 577–582.
   Google Scholar
• Niikawa N, Kuroki Y, Kajii T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988; 31: 565–589.
   PubMed Web of Science ®Google Scholar
• Wilson GN. Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management. Am J Med Genet 1998; 79: 112–120.
   Google Scholar
• Schrander-Stumpel C, Meinecke P, Wilson G, et al. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 1994; 153: 438–445.
   Google Scholar
• Chrzanowska KH, Krajewska-Walasek M, Kus J, et al. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency. Clinical Genetics 1998; 53: 308–312.
   Google Scholar
• Hostoffer RW, Bay CA, Wagner K, etal. Kabuki make-up syndrome associated with anacquired hypogammaglobulinemia and anti-IgA antibodies. Clin Pediatr (Phila) 1996; 35: 273–276.
   Google Scholar
• Artigas M, Alcazar R, Bel J, et al. Kabuki syndrome and common variable immunodeficiency. Am J Hum Genet 1997; 61: A91.
   Google Scholar
• Watanabe T, Miyakawa M, Satoh M, et al. Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura. Acta Paediatr Jpn 1994; 36: 727–729.
   Google Scholar
• Kawame H, Hannibal MC, Hudgins L, et al. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 1999; 134: 480–485.
   PubMed Web of Science ®Google Scholar
• Ewart-Toland A,Enns GM, Cox VA, etal. Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. Am J Med Genet 1998; 80: 362–367.
   PubMed Web of Science ®Google Scholar
• Tsukahara M, Opitz JM. Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. Am J Med Genet 1996; 63: 277–289.
   Google Scholar
• Antoniades K, Hatzistilianou M, Pitsavas G, et al. Co-existence of Dubowitz and hyper-IgE syndromes: a case report. Eur J Pediatr 1996; 155: 390–392.
   PubMed Web of Science ®Google Scholar
• Rivas F, Fragoso R, Ramos-Zepeda R, et al. Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome. Acta Paediatr Scand 1980; 69: 123–125.
   Google Scholar
• Kimura H, Ito Y, Koda Y, et al. Rubinstein-Taybi Syndrome with thymic hypoplasia. Am J Med Genet 1993; 46: 293–296.
   Google Scholar
• Villella A, Bialostocky D, Lori E, et al. Rubinstein-Taybi syndrome with humoral and cellular defects: a case report. Arch Dis Child 2000; 83: 360–361.
   Google Scholar
• Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995; 376: 348–351.
   PubMed Web of Science ®Google Scholar
• Petrij F, Dauwerse HG, Blough RI, et al. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 2000; 37: 168–176.
   Google Scholar
• Shokeir MH. Short stature, absent thumbs,flat facies, anosmia and combined immune deficiency (CID). Birth Defects Orig Artic Ser 1978; 14: 103–116.
   Google Scholar
• Sutor GC, Schuppert F, Schatzle C, et al. Primary combined immunodeficiency, growth retardation, and disturbed sexual development: a novel syndrome of congenital impairment of the cellular immune system and the endocrine system. J Allergy Clin Immunol 1998; 102: 327–328.
   Google Scholar
• Toriello HV, Horton WA, Oostendorp A, et al. An apparently new syndrome of microcephalic primordial dwarfism and cataracts. Am J Med Genet 1986; 25: 1–8.
   Web of Science ®Google Scholar
• Stoll C, Alembik Y, Lutz P. A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents. Genet Couns 1994; 5: 161–165.
   Google Scholar
• Hoffman HM, Bastian JF, Bird LM. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome. Clin Dysmorphol 2001; 10: 1–8.
   Google Scholar
• Moreno LA, Gottrand F, Turck D, et al. Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am J Med Genet 1990; 37: 143–146.
   Google Scholar
• Walker MW, Lovell MA, Kelly TE, et al. Multiple areas of intestinal atresia associated with immunodeficiency and posttransfusion graft-versus-host disease. J Pediatr 1993; 123: 93–95.
   Google Scholar
• Rothenberg ME, White FV, Chilmonczyk B, et al. A syndrome involving immunodeficiency and multiple intestinal atresias. Immunodeficiency 1995; 5: 171–178.
   Google Scholar
• Snyder CL, Mancini ML, Kennedy AP, et al. Multiple gastrointestinal atresias with cystic dilatation of the biliary duct. Pediatr Surg Int 2000; 16: 211–213.
   Google Scholar
• Moore SW, de Jongh G, Bouic P, et al. Immune deficiency in familial duodenal atresia. J Pediatr Surg 1996; 31: 1733–1735.
   Google Scholar
• Smith LJ, Szymanski W, Foulston C, et al. Familial enteropathy with villous edema and im-munoglobulin G2 subclass deficiency. J Pediatr 1994; 125: 541–548.
   Google Scholar
• Girault D, Goulet O, Le Deist F, et al. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr 1994; 125: 36–42.
   Google Scholar
• Dawson J, Hodgson HJ, Pepys MB, et al. Immunodeficiency, malabsorption and secretory diarrhea. A new syndrome. Am J Med 1979; 67: 540–546.
   Google Scholar
• Griscelli C, Durandy A, Guy-Grand D, et al. A syndrome associating partial albinism and immunodeficiency. Am J Med 1978; 65: 691–702.
   PubMed Web of Science ®Google Scholar
• Mancini AJ, Chan LS, Paller AS. Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol 1998; 38: 295–300.
   Google Scholar
• Dufourcq-Lagelouse R, Pastural E, Barrat FJ, et al. Genetic basis of hemophagocytic lympho-histiocytosis syndrome. Int J Mol Med 1999; 4: 127–133.
   PubMed Web of Science ®Google Scholar
• Hurvitz H, Gillis R, Klaus S, et al. A kindred with Griscelli disease: spectrum of neurological involvement. Eur J Pediatr 1993; 152: 402–405.
   PubMed Web of Science ®Google Scholar
• Klein C, Philippe N, Le Deist F, et al. Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr 1994; 125: 886–895.
   PubMed Web of Science ®Google Scholar
• Menasche G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 2000; 25: 173–176.
   PubMed Web of Science ®Google Scholar
• Pastural E, Barrat FJ, Dufourcq-Lagelouse R, et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 1997; 16: 289–292.
   PubMed Web of Science ®Google Scholar
• Sanal O, Yel L, Kucukali T, et al. An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). J Neurol 2000; 247: 570–572.
   Google Scholar
• Diamantopoulos N, Bergman I, Kaplan S. Actinomycosis meningitis in a girl with incontinentia pigmenti. Clin Pediatr (Phila) 1985; 24: 651–654.
   Google Scholar
• Menni S, Piccinno R, Biolchini A, et al. Immunologic investigations in eight patients with incontinentia pigmenti. Pediatr Dermatol 1990; 7: 275–277.
   Google Scholar
• Jessen RT, VanEpps DE, Goodwin JS,etal.Incontinentiapigmenti.Evidence for both neutrophil and lymphocyte dysfunction. Arch Dermatol 1978; 114: 1182–1186.
   Google Scholar
• Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000; 405: 466–472.
   PubMed Web of Science ®Google Scholar
• Kere J, Srivastava AK, Montonen O, et al. X-linked anhidrotic (hypohidrotic) ectodermal dys-plasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409–416.
   PubMed Web of Science ®Google Scholar
• Monreal AW, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 1998; 63: 380–389.
   PubMedGoogle Scholar
• Monreal AW, Ferguson BM, Headon DJ, et al. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999; 22: 366–369.
   PubMed Web of Science ®Google Scholar
• Davis JR, Solomon LM. Cellular immunodeficiency in anhidrotic ectodermal dysplasia. Acta Derm Venereol 1976; 56: 115–120.
   Google Scholar
• Abinun M, Spickett G, Appleton AL, et al. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. Eur J Pediatr 1996; 155: 146–147.
   PubMed Web of Science ®Google Scholar
• Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 2000; 67: 1555–1562.
   PubMed Web of Science ®Google Scholar
• Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001; 27: 277–285.
   PubMed Web of Science ®Google Scholar
• Aruffo A, Farrington M, Hollenbaugh D, et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 1993; 72: 291–300.
   PubMed Web of Science ®Google Scholar
• Jain A,MaC A, Liu S,etal. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2001; 2: 223–228.
   PubMed Web of Science ®Google Scholar
• Drachtman RA, Alter BP. Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature. Am J Pediatr Hematol Oncol 1992; 14: 297–304.
   Google Scholar
• Dokal I. Dyskeratosis congenita: an inherited bone marrow failure syndrome. Br J Haematol 1996; 92: 775–779.
   PubMed Web of Science ®Google Scholar
• Womer R, Clark JE, Wood P, et al. Dyskeratosis congenita: two examples of this multisystem disorder. Pediatrics 1983; 71: 603–609.
   PubMed Web of Science ®Google Scholar
• Solder B, Weiss M, Jager A, et al. Dyskeratosis congenita: multisystemic disorder with special consideration of immunologic aspects. A review of the literature. Clin Pediatr (Phila) 1998; 37: 521–530.
   PubMed Web of Science ®Google Scholar
• Trowbridge AA, Sirinavin C, Linman JW. Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature. Am J Hematol 1977; 3: 143–152.
   Google Scholar
• Heiss NS, Knight SW, Vulliamy TJ, et al. X-linked dyskeratosis congenita is causedby mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998; 19: 32–38.
   PubMed Web of Science ®Google Scholar
• Van Wouwe JP. Clinical and laboratory diagnosis of acrodermatitis enteropathica. Eur J Pediatr 1989; 149: 2–8.
   PubMed Web of Science ®Google Scholar
• Oleske JM, Westphal ML, Shore S, et al. Zinc therapy of depressed cellular immunity in acro-dermatitis enteropathica. Its correction. Am J Dis Child 1979; 133: 915–918.
   PubMedGoogle Scholar
• Weston WL, Huff JC, Humbert JR, et al. Zinc correction of defective chemotaxis in acroder-matitis enteropathica. Arch Dermatol 1977; 113: 422–425.
   PubMedGoogle Scholar
• Kury S, Dreno B, Bezieau S, et al. Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nat Genet 2002; 31: 239–240.
   PubMed Web of Science ®Google Scholar
• Greene SL, Muller SA. Netherton’s syndrome. Report of a case and review of the literature. J Am Acad Dermatol 1985; 13: 329–337.
   Google Scholar
• Stryk S, Siegfried EC, Knutsen AP. Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome. Pediatr Dermatol 1999; 16: 19–22.
   PubMed Web of Science ®Google Scholar
• Smith DL, Smith JG, Wong SW, et al. Netherton’s syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immunol 1995; 95: 116–123.
   PubMed Web of Science ®Google Scholar
• Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000; 25: 141–142.
   PubMed Web of Science ®Google Scholar
• Van Dyke TE, Taubman MA, Ebersole JL, et al. The Papillon-Lefevre syndrome: neutrophil dysfunction with severe periodontal disease. Clin Immunol Immunopathol 1984; 31: 419–429.
   PubMedGoogle Scholar
• Hart TC, Hart PS, Bowden DW, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome. J Med Genet 1999; 36: 881–887.
   PubMed Web of Science ®Google Scholar
• Hart PS, Zhang Y, Firatli E, et al. Identification of cathepsin C mutations in ethnically diverse papillon-Lefevre syndrome patients. J Med Genet 2000; 37: 927–932.
   PubMedGoogle Scholar
• Pignata C, Fiore M, Guzzetta V, et al. Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am J Med Genet 1996; 65: 167–170.
   PubMed Web of Science ®Google Scholar
• Frank J, Pignata C, Panteleyev AA, et al. Exposing the human nude phenotype. Nature 1999; 398: 473–474.
   PubMedGoogle Scholar
• Nehls M, Pfeifer D, Schorpp M, et al. New member of the winged-helix protein family disrupted in mouse and rat nude mutations. Nature 1994; 372: 103–107.
   PubMed Web of Science ®Google Scholar
• Cantu JM, Arias J, Foncerrada M, et al. Syndrome of onychotrichodysplasia with chronic neutropenia in an infant from consanguineous parents. Birth Defects Orig Artic Ser 1975; 11: 63–66.
   Google Scholar
• Dallapiccola B, Mingarelli R, Obregon G. Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report. Clin Genet 1994; 45: 200–202.
   Google Scholar
• Cleaver JE. It was a very good year for DNA repair. Cell 1994; 76: 1–4.
   PubMed Web of Science ®Google Scholar
• Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987; 123: 241–250.
   Google Scholar
• Wysenbeek AJ, Weiss H, Duczyminer-Kahana M, et al. Immunologic alterations in xeroderma pigmentosum patients. Cancer 1986; 58: 219–221.
   Google Scholar
• Mariani E, Facchini A, Honorati MC, et al. Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy. Clin Exp Immunol 1992; 88: 376–382.
   PubMed Web of Science ®Google Scholar
• Dupuy JM, Lafforet D. A defect of cellular immunity in Xerodermapigmentosum. Clin Immunol Immunopathol 1974; 3: 52–58.
   Google Scholar
• Kotzot D, Richter K, Gierth-Fiebig K. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? Am J Med Genet 1994; 50: 224–227.
   Google Scholar
• Clericuzio C, Hoyme HE, Aase JM. Immune deficient poikiloderma: a new genodermatosis. Am J Hum Genet 1991; 49: 131.
   Google Scholar
• Grubben C, de Cock P, Borghgraef M, et al. Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity. Clin Genet 1992; 41:</b>16-21.
   Google Scholar
• Ainsworth SB, Baraitser M, Mueller RF, et al. Selective IgG2 subclass deficiency-a marker for the syndrome of pre/postnatal growth retardation, developmental delay, hypotrophy of distal extremities, dental anomalies and eczema. Clin Dysmorphol 1997; 6: 139–146.
   Google Scholar
• Jung LK, Engelhard D, Kapoor N, et al. Pyoderma eczema and folliculitis with defective leucocyte and lymphocyte function: a new familial immunodeficiency disease responsive to a histamine-1 antagonist. Lancet 1983; 2: 185–187.
   Google Scholar
• Davenport SL, Donlan MA, Dolan CR, et al. Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis. Birth Defects Orig Artic Ser 1979; 15: 227–237.
   Google Scholar
• Ipp MM, Gelfand EW. Antibody deficiency and alopecia. J Pediatr 1976; 89: 728–731.
   Google Scholar
• Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799–808.
   PubMed Web of Science ®Google Scholar
• Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 1992; 255: 1253–1255.
   PubMed Web of Science ®Google Scholar
• Fu YH, Pizzuti A, Fenwick RG Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992; 255: 1256–1258.
   PubMed Web of Science ®Google Scholar
• Ranum LP, Rasmussen PF, Benzow KA, etal. Genetic mapping of a second myotonic dystrophy locus. Nat Genet 1998; 19: 196–198.
   PubMed Web of Science ®Google Scholar
• Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001; 293: 864–867.
   PubMed Web of Science ®Google Scholar
• Wochner RD, Drews G, Strober W, et al. Accelerated breakdown of immunoglobulin G (IgG) in myotonic dystrophy: a hereditary error of immunoglobulin catabolism. J Clin Invest 1966; 45: 321–329.
   Google Scholar
• Nakamura A, Kojo T, Arahata K, et al. Reduction of serum IgG level and peripheral T-cell counts are correlated with CTG repeat lengths in myotonic dystrophy patients. Neuromuscul Disord 1996; 6: 203–210.
   Google Scholar
• Suzumura A, Yamada H, Matsuoka Y, et al. Immunoglobulin abnormalities in patients with myotonic dystrophy. Acta Neurol Scand 1986; 74: 132–139.
   Google Scholar
• Frydman M, Etzioni A, Eidlitz-Markus T, et al. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. Am J Med Genet 1992; 44: 297–302.
   PubMed Web of Science ®Google Scholar
• Etzioni A, Frydman M, Pollack S, et al. Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med 1992; 327: 1789–1792.
   PubMed Web of Science ®Google Scholar
• Phillips ML, Schwartz BR, Etzioni A,et al. Neutrophil adhesionin leukocyte adhesion deficiency syndrome type 2. J Clin Invest 1995; 96: 2898–2906.
   Google Scholar
• Price TH, Ochs HD, Gershoni-Baruch R, et al. In vivo neutrophil and lymphocyte function studies in a patient with leukocyte adhesion deficiency type II. Blood 1994; 84: 1635–1639.
   Google Scholar
• Kuijpers TW, Etzioni A, Pollack S, et al. Antigen-specific immune responsiveness and lymphocyte recruitment in leukocyte adhesion deficiency type II. Int Immunol 1997; 9: 607–613.
   Google Scholar
• Luhn K, Wild MK, Eckhardt M, et al. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet 2001; 28: 69–72.
   PubMed Web of Science ®Google Scholar
• Lubke T, Marquardt T, Etzioni A, et al. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet 2001; 28: 73–76.
   PubMed Web of Science ®Google Scholar
• Vici CD, Sabetta G, Gambarara M, et al. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet 1988; 29: 1–8.
   Google Scholar
• del Campo M, Hall BD, Aeby A, et al. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet 1999; 85: 479–485.
   Google Scholar
• Chiyonobu T, Yoshihara T, Fukushima Y, et al. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am J Med Genet 2002; 109: 61–66.
   Google Scholar
• Hoyeraal HM, Lamvik J, Moe PJ. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 1970; 59: 185–191.
   PubMed Web of Science ®Google Scholar
• Hreidarsson S, Kristjansson K, Johannesson G, et al. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand 1988; 77: 773–775.
   PubMed Web of Science ®Google Scholar
• Berthet F, Caduff R, Schaad UB, et al. A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia. Eur J Pediatr 1994; 153: 333–338.
   Google Scholar
• Knight SW, Heiss NS, Vulliamy TJ,et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 1999; 107: 335–339.
   PubMed Web of Science ®Google Scholar
• Yaghmai R, Kimyai-Asadi A, Rostamiani K, et al. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J Pediatr 2000; 136: 390–393.
   PubMedGoogle Scholar
• Kivitie-Kallio S, Rajantie J, Juvonen E, et al. Granulocytopenia in Cohen syndrome. Br J Haematol 1997; 98: 308–311.
   Google Scholar
• Alaluusua S, Kivitie-Kallio S, Wolf J, et al. Periodontal findings in Cohen syndrome with chronic neutropenia. J Periodontol 1997; 68: 473–478.
   Google Scholar
• Olivieri O, Lombardi S, Russo C, et al. Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. Haematologica 1998; 83: 778–782.
   Google Scholar
• Kivitie-Kallio S,Norio R. Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet 2001; 102: 125–135.
   PubMed Web of Science ®Google Scholar
• Say B, Barber N, Miller GC, et al. Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers. J Med Genet 1986; 23: 355–359.
   Google Scholar
• Carpenter NJ, Berkel I, Say B. ’Novel’ immunodeficiency syndrome may be a previously described entity. Clin Genet 2000; 57: 90-92[Letter].
   Google Scholar
• Perandones C, Cerretini RI, Vargas Vera RM, et al. Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al. J Med Genet 1996; 33: 227–229.
   Google Scholar
• Adderson EE, Viskochil DH, Carey JC, et al. Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: a genetic syndrome? Am J Med Genet 2000; 95: 17–20.
   Google Scholar
• Woods G, Black G, Norbury G. Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition. J Med Genet 1995; 32: 191–196.
   Google Scholar
• Mousa AR, Al-Din AS, Al-Nassar KE, et al. Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family-a new syndrome. J Neurol Sci 1986; 76: 105–121.
   Google Scholar
• Aguilar L, Lisker R, Hernandez-Peniche J, et al. A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency. Clin Genet 1978; 13: 154–158.
   Google Scholar
• Krawinkel MB, Ernst M, Feller A, et al. Lissencephaly, abnormal lymph nodes, and T-cell deficiency in one patient. Am J Med Genet 1989; 33: 436–443.
   Google Scholar
• Sullivan KE, Mullen CA, Blaese RM, et al. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994; 125: 876–885.
   PubMed Web of Science ®Google Scholar
• Villa A, Notarangelo L, Macchi P, et al. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 1995; 9: 414–417.
   PubMed Web of Science ®Google Scholar
• Derry JM, Ochs HD, Francke U.Isolationofanovel gene mutatedin Wiskott-Aldrich syndrome. Cell 1994; 78: 635–644.
   PubMed Web of Science ®Google Scholar
• Devriendt K, Kim AS, Mathijs G, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001; 27: 313–317.
   PubMed Web of Science ®Google Scholar
• Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 1996; 14: 307–311.
   PubMed Web of Science ®Google Scholar
• Villa A, Santagata S, Bozzi F, et al. Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998; 93: 885–896.
   PubMed Web of Science ®Google Scholar
• Smith OP, Hann IM, Chessells JM,etal. Haematological abnormalities inShwachman-Diamond syndrome. Br J Haematol 1996; 94: 279–284.
   PubMed Web of Science ®Google Scholar
• Mack DR, Forstner GG, Wilschanski M, et al. Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996; 111: 1593–1602.
   PubMed Web of Science ®Google Scholar
• Rotig A, Cormier V, Koll F, et al. Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. Genomics 1991; 10: 502–504.
   PubMed Web of Science ®Google Scholar
• Rotig A, Bourgeron T, Chretien D, et al. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995; 4: 1327–1330.
   PubMed Web of Science ®Google Scholar
• Casademont J, Barrientos A, Cardellach F, et al. Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Hum Mol Genet 1994; 3: 1945–1949.
   PubMedGoogle Scholar
• Poulton J, Morten KJ, Weber K, et al. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum Mol Genet 1994; 3: 947–951.
   PubMed Web of Science ®Google Scholar
• Wetzler M, Talpaz M, Kleinerman ES, et al. A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglob-ulinemia. Am J Med 1990; 89: 663–672.
   PubMed Web of Science ®Google Scholar
• Gorlin RJ, Gelb B, Diaz GA, et al. WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. Am J Med Genet 2000; 91: 368–376.
   PubMed Web of Science ®Google Scholar
• Hitzig WH, Dohmann U, Pluss HJ, et al. Hereditary transcobalamin II deficiency: clinical findings in a new family. J Pediatr 1974; 85: 622–628.
   PubMedGoogle Scholar
• Kaikov Y, Wadsworth LD, Hall CA, et al. Transcobalamin II deficiency: case report and review of the literature. Eur J Pediatr 1991; 150: 841–843.
   Google Scholar
• Seger R, Frater-Schroder M, Hitzig WH, et al. Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion. J Inherit Metab Dis 1980; 3: 3–9.
   Google Scholar
• Spielberg SP, Boxer LA, Oliver JM, et al. Oxidative damage to neutrophils in glutathione synthetase deficiency. Br J Haematol 1979; 42: 215–223.
   PubMed Web of Science ®Google Scholar
• Boxer LA, Oliver JM, Spielberg SP, et al. Protection of granulocytes by vitamin E in glutathione synthetase deficiency. N Engl J Med 1979; 301: 901–905.
   PubMed Web of Science ®Google Scholar
• Corbeel L, Van den Berghe G, Jaeken J, et al. Congenital folate malabsorption. Eur J Pediatr 1985; 143: 284–290.
   Google Scholar
• Urbach J, Abrahamov A, Grossowicz N. Congenital isolated folic acid malabsorption. Arch Dis Child 1987; 62: 78–80.
   Google Scholar
• Malatack JJ, Moran MM, Moughan B. Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect. Pediatrics 1999; 104: 1133–1137.
   PubMedGoogle Scholar
• Hirschhorn R. Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediatr Res 1993; 33: S35–41.
   PubMedGoogle Scholar
• Carapella-de Luca E, Aiuti F, Lucarelli P, et al. A patient with nucleoside phosphorylase deficiency, selective T-cell deficiency, and autoimmune hemolytic anemia. J Pediatr 1978; 93: 1000–1003.
   Google Scholar
• Page T, Nyhan WL, Yu AL, et al. A syndrome of megaloblastic anemia, immunodeficiency, and excessive nucleotide degradation. Adv Exp Med Biol 1991; 309B: 345–348.
   Google Scholar
• Visser G, Rake JP, Fernandes J, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr 2000; 137: 187–191.
   PubMed Web of Science ®Google Scholar
• Visser G, Herwig J, Rake JP, et al. Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c. J Inherit Metab Dis 1998; 21: 227–231.
   Google Scholar
• Gitzelmann R, Bosshard NU. Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review. Eur J Pediatr 1993; 152: S33–38.
   Google Scholar
• Gerin I, Veiga-da-Cunha M, Achouri Y, et al. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett 1997; 419: 235–238.
   PubMedGoogle Scholar
• Veiga-da-Cunha M, Gerin I, Chen YT, et al. A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet 1998; 63: 976–983.
   Google Scholar
• Levy HL, Sepe SJ, Shih VE, et al. Sepsis due to Escherichia coli in neonates with galactosemia. N Engl J Med 1977; 297: 823–825.
   Google Scholar
• Kobayashi RH, Kettelhut BV, Kobayashi AL. Galactose inhibition of neonatal neutrophil function. Pediatr Infect Dis 1983; 2: 442–445.
   Google Scholar
• Borzy MS, Wolff L, Gewurz A, et al. Recurrent sepsis with deficiencies of C2 and galactokinase. Am J Dis Child 1984; 138: 186–191.
   Google Scholar
• Barth PG, Wanders RJ, VrekenP,etal. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). J Inherit Metab Dis 1999; 22: 555–567.
   PubMed Web of Science ®Google Scholar
• Kelley RI, Cheatham JP, Clark BJ, et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 1991; 119: 738–747.
   PubMed Web of Science ®Google Scholar
• Bione S, D’Adamo P, Maestrini E, et al. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 1996; 12: 385–389.
   PubMed Web of Science ®Google Scholar
• Matsui SM, Mahoney MJ, Rosenberg LE. The natural history of the inherited methylmalonic acidemias. N Engl J Med 1983; 308: 857–861.
   Google Scholar
• Church JA, Koch R, Shaw KN, et al. Immune functions in methylmalonicaciduria. J Inherit Metab Dis 1984; 7: 12–14.
   Google Scholar
• Wong SN, Low LC, Lau YL, et al. Immunodeficiency in methylmalonic acidaemia. J Paediatr Child Health 1992; 28: 180–183.
   Google Scholar
• Inoue S, Krieger I, Sarnaik A, et al. Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia. Pediatr Res 1981; 15: 95–98.
   Google Scholar
• Muller S, Falkenberg N, Monch E, et al. Propionic acidaemia and immunodeficiency. Lancet 1980; 1: 551–552.
   Google Scholar
• Raby RB, Ward JC, Herrod HG. Propionic acidaemia and immunodeficiency. J Inherit Metab Dis 1994; 17: 250–251.
   Google Scholar
• Kelleher JF, Yudkoff M, Hutchinson R, et al. The pancytopenia of isovaleric acidemia. Pediatrics 1980; 65: 1023–1027.
   Google Scholar
• Dionisi-Vici C, De Felice L, el Hachem M, et al. Intravenous immune globulin in lysinuric protein intolerance. J Inherit Metab Dis 1998; 21: 95–102.
   Google Scholar
• Nagata M, Suzuki M, Kawamura G, et al. Immunological abnormalities in a patient with lysinuric protein intolerance. Eur J Pediatr 1987; 146: 427–428.
   Google Scholar
• Lukkarinen M, Parto K, Ruuskanen O, et al. B and T cell immunity in patients with lysinuric protein intolerance. Clin Exp Immunol 1999; 116: 430–434.
   Google Scholar
• Yoshida Y, Machigashira K, Suehara M, et al. Immunological abnormality in patients with lysinuric protein intolerance. J Neurol Sci 1995; 134: 178–182.
   Google Scholar
• Lukkarinen M, Nanto-Salonen K, Ruuskanen O, et al. Varicella and varicella immunity in patients with lysinuric protein intolerance. J Inherit Metab Dis 1998; 21: 103–111.
   Google Scholar
• Borsani G, Bassi MT, Sperandeo MP, et al. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet 1999; 21: 297–301.
   PubMed Web of Science ®Google Scholar
• Torrents D, Mykkanen J, Pineda M, et al. Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet 1999; 21: 293–296.
   PubMed Web of Science ®Google Scholar
• Girot R,Hamet M,Perignon JL,et al. Cellular immune deficiencyin two siblings with hereditary orotic aciduria. N Engl J Med 1983; 308: 700–704.
   Google Scholar
• Alvarado CS, Livingstone LR, Jones ME, et al. Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria. J Pediatr 1988; 113: 867–871.
   Google Scholar
• Becroft DM, Phillips LI, Webster DR, et al. Absence of immune deficiency in hereditary orotic aciduria. N Engl J Med 1984; 310: 1333–1334.
   Google Scholar
• Desnick RJ, Sharp HL, Grabowski GA, et al. Mannosidosis: clinical, morphologic, immuno-logic, and biochemical studies. Pediatr Res 1976; 10: 985–996.
   Google Scholar
• Cowan MJ, Wara DW, Packman S, et al. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet 1979; 2: 115–118.
   PubMed Web of Science ®Google Scholar
• Verloes A,Dresse MF, Keutgen H,et al. Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia. Am J Med Genet 2001; 101: 209–212.
   Google Scholar
• Edery P, Le Deist F, Briard ML, et al. B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? J Med Genet 2001; 38: 488–493.
   Google Scholar
• Rudd NL, Curry C, Chen KT, et al. Thymic-renal-anal-lung dysplasia in sibs: a new autosomal recessive error of early morphogenesis. Am J Med Genet 1990; 37: 401–405.
   Google Scholar
• Hisama FM, Reyes-Mugica M, Wargowski DS, et al. Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. Am J Med Genet 1998; 80: 335–342.
   Google Scholar
• Frenkel M, Russe HP. Retinal telangiectasia associated with hypogammaglobulinemia. Am J Ophthalmol 1967; 63: 215–220.
   Google Scholar
• Lichtenstein J. A ‘new’ syndrome with neutropenia, immunoglobulin deficiency, peculiar facies and bony anomalies. Birth Defects Orig Artic Ser 1972; 8: 178–190.
   Google Scholar
• Waldmann TA, Terry WD. Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin. J Clin Invest 1990; 86: 2093–2098.
   PubMed Web of Science ®Google Scholar
• Schaller J, Davis SD, Ching YC, et al. Hypergammaglobulinaemia, antibody deficiency, autoimmune haemolytic anaemia, and nephritis in an infant with a familial lymphopenic immune defect. Lancet 1966; 2: 825–829.
   Google Scholar
• Feldman KW, Ochs HD, Price TH, et al. Congenital stem cell dysfunction associated with Turner-like phenotype. J Pediatr 1976; 88: 979–982.
   Google Scholar
• Mollica F, Messina A, Stivala F, et al. Immuno-deficiency in Schwartz-Jampel syndrome. Acta Paediatr Scand 1979; 68: 133–135.
   Google Scholar
• Greene RJ, Gilbert EF, Huang SW, et al. Immunodeficiency associated with exomphalos-macroglossia-gigantism syndrome. J Pediatr 1973; 82: 814–820.
   PubMedGoogle Scholar
• Thorburn MJ, Wright ES, Miller CG, et al. Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. Am J Dis Child 1970; 119: 316–321.
   PubMedGoogle Scholar
• Hong R, Horowitz SD, Borzy MF, et al. The cerebro-hepato-renal syndrome of Zellweger: similarity to and differentiation from the DiGeorge syndrome. Thymus 1981; 3: 97–104.
   Google Scholar
• Frick H, Munger DM, Fauchere JC, et al. Hypoplastic thymus and T-cell reduction in EECUT syndrome. Am J Med Genet 1997; 69: 65–68.
   PubMed Web of Science ®Google Scholar
• Pedroni E, Bianchi E, Ugazio AG, et al. Immunodeficiency and steely hair. Lancet 1975; 1: 1303-1304[Letter].
   Google Scholar
• Kultursay N, Taneli B, Cavusoglu A. Pseudoachondroplasia with immune deficiency. Pediatr Radiol 1988; 18: 505–508.
   Google Scholar
• Lauener R, Seger R, Jorg W, et al. Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities. Am J Med Genet 1989; 33: 280–281.
   Google Scholar
• Chandra RK, Joglekar S, Antonio Z. Deficiency of humoral immunity and hypoparathyroidism associated with the Hallerman-Streiff syndrome. J Pediatr 1978; 93: 892–893.
   PubMedGoogle Scholar
• Haraldsson A, van der Burgt CJ, Weemaes CM, et al. Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. Eur J Pediatr 1993; 152: 509–512.
   Google Scholar
• Golombek SG, Clement LT, BegleiterM,etal. Immunodeficiencyinapatient with Baller-Gerold syndrome: a reason for early demise? South Med J 1998; 91: 966–969.
   Google Scholar
• Ostergaard GZ, Nielsen H, Friis B. Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome. Eur J Pediatr 1992; 151: 291–294.
   Google Scholar
• Harjacek M, Batinic D, Sarnavka V, et al. Immunological aspects of progeria (Hutchinson-Gilford syndrome) in a 15-month-old child. Eur J Pediatr 1990; 150: 40–42.
   Google Scholar
• Prasad C, Cramer BC, Pushpanathan C, et al. Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia. Clin Genet 2000; 58: 390–395.
   Google Scholar
• Lilleyman JS. Constitutional hypoplastic anemia associated with familial “bird-headed” dwarfism (Seckel syndrome). Am J Pediatr Hematol Oncol 1984; 6: 207–209.
   Google Scholar
• Crisp AJ, Brenton DP. Engelmann’s disease of bone-a systemic disorder? Ann Rheum Dis 1982; 41: 183–188.
   Google Scholar
• Borgna-Pignatti C, Marradi P, Pinelli L, et al. Thiamine-responsive anemia in DIDMOAD syndrome. J Pediatr 1989; 114: 405–410.
   PubMed Web of Science ®Google Scholar
• Hodge D, Misbah SA, Mueller RF, et al. Proteus syndrome and immunodeficiency. Arch Dis Child 2000; 82: 234–235.
   Google Scholar
• Guerin V, Bene MC, Judlin P, et al. Cowden disease in a young girl: gynecologic and immuno-logic overview in a case and in the literature. Obstet Gynecol 1989; 73: 890–892.
   PubMedGoogle Scholar
• Starink TM, van der Veen JP, Goldschmeding R. Decreased natural killer cell activity in Cow-den’s syndrome. J Am Acad Dermatol 1986; 15: 294–296.
   Google Scholar
• Ruschak PJ, Kauh YC, Luscombe HA. Cowden’s disease associated with immunodeficiency. Arch Dermatol 1981; 117: 573–575.
   Google Scholar
• German J. Bloom syndrome: a mendelian prototype of somatic mutational disease. Medicine (Baltimore) 1993; 72: 393–406.
   PubMed Web of Science ®Google Scholar
• German J. Bloom’s syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet 1997; 93: 100–106.
   PubMed Web of Science ®Google Scholar
• Kondo N, Motoyoshi F, Mori S, et al. Long-term study of the immunodeficiency of Bloom’s syndrome. Acta Paediatr 1992; 81: 86–90.
   PubMedGoogle Scholar
• Ellis NA, Groden J, Ye TZ, et al. The Bloom’s syndrome gene product is homologous to RecQ helicases. Cell 1995; 83: 655–666.
   PubMed Web of Science ®Google Scholar
• Ellis NA, German J. Molecular genetics of Bloom’s syndrome. Hum Mol Genet 1996; 5 Spec No:1457-1463.
   Google Scholar
• Tiepolo L, Maraschio P, Gimelli G, et al. Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Hum Genet 1979; 51: 127–137.
   PubMed Web of Science ®Google Scholar
• Maraschio P, Zuffardi O, Dalla Fior T, et al. Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet 1988; 25: 173–180.
   PubMed Web of Science ®Google Scholar
• Smeets DF, Moog U,Weemaes CM, et al. ICF syndrome: a new case and review of the literature. Hum Genet 1994; 94: 240–246.
   PubMed Web of Science ®Google Scholar
• Fasth A, Forestier E, Holmberg E, et al. Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity? Acta Paediatr Scand 1990; 79: 605–612.
   Google Scholar
• Okano M, Bell DW, Haber DA,et al. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 1999; 99: 247–257.
   PubMed Web of Science ®Google Scholar
• Xu GL, Bestor TH, Bourc’hisD,etal. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 1999; 402: 187–191.
   PubMed Web of Science ®Google Scholar
• Joenje H, Oostra AB, Wijker M, et al. Evidence for at least eight Fanconi anemia genes. Am J Hum Genet 1997; 61: 940–944.
   PubMed Web of Science ®Google Scholar
• Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet 1996; 14: 320–323.
   PubMed Web of Science ®Google Scholar
• The Fanconi anaemia/breast cancer consortium. Positional cloning of the Fanconi anaemia group A gene. Nat Genet 1996; 14: 324–328.
   PubMed Web of Science ®Google Scholar
• Strathdee CA, Gavish H, Shannon WR, et al. Cloning of cDNAs for Fanconi’s anaemia by functional complementation. Nature 1992; 356: 763–767.
   PubMed Web of Science ®Google Scholar
• Kupfer GM, Naf D, Suliman A, et al. The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nat Genet 1997; 17: 487–490.
   PubMed Web of Science ®Google Scholar
• Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 1986; 77: 89–92.
   PubMedGoogle Scholar
• Aurias A, Dutrillaux B. Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia. Hum Genet 1986; 72: 210–214.
   PubMed Web of Science ®Google Scholar
• Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992; 82: 169–179.
   PubMedGoogle Scholar
• Gatti RA, Boder E, Vinters HV, et al. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine 1991; 70: 99–117.
   PubMed Web of Science ®Google Scholar
• Savitsky K, Sfez S, Tagle DA, et al. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet 1995; 4: 2025–2032.
   PubMed Web of Science ®Google Scholar
• Concannon P, Gatti RA. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat 1997; 10: 100–107.
   PubMed Web of Science ®Google Scholar
• Teraoka SN, Telatar M, Becker-Catania S, et al. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet 1999; 64: 1617–1631.
   PubMed Web of Science ®Google Scholar
• Khanna KK, Keating KE, KozlovS,etal.ATM associates withand phosphorylates p53: mappingthe region of interaction. Nat Genet 1998; 20: 398–400.
   PubMed Web of Science ®Google Scholar
• Brown KD, Barlow C, Wynshaw-Boris A. Multiple ATM-dependent pathways: an explanation for pleiotropy. Am J Hum Genet 1999; 64: 46–50.
   PubMedGoogle Scholar
• Zhao S, Weng YC, Yuan SS, et al. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Nature 2000; 405: 473–477.
   PubMed Web of Science ®Google Scholar
• Gatei M, Young D, Cerosaletti KM, et al. ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nat Genet 2000; 25: 115–119.
   PubMed Web of Science ®Google Scholar
• van der Burgt I, Chrzanowska KH, Smeets D, et al. Nijmegen breakage syndrome. J Med Genet 1996; 33: 153–156.
   PubMed Web of Science ®Google Scholar
• The International Nijmegen Breakage Syndrome Study Group. Nijmegen breakage syndrome. Arch Dis Child 2000; 82: 400–406.
   PubMed Web of Science ®Google Scholar
• Matsuura S, Tauchi H, Nakamura A, et al. Positional cloning of the gene for Nijmegen breakage syndrome. Nat Genet 1998; 19: 179–181.
   PubMed Web of Science ®Google Scholar
• Varon R, Vissinga C, Platzer M, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998; 93: 467–476.
   PubMed Web of Science ®Google Scholar
• Carney JP, Maser RS, Olivares H, et al. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 1998; 93: 477–486.
   PubMed Web of Science ®Google Scholar
• Lim DS, Kim ST, Xu B, et al. ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 2000; 404: 613–617.
   PubMed Web of Science ®Google Scholar
• Wu X, Ranganathan V, Weisman DS, et al. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature 2000; 405: 477–482.
   PubMed Web of Science ®Google Scholar
• Stewart GS, Maser RS, Stankovic T, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999; 99: 577–587.
   PubMed Web of Science ®Google Scholar
• Butler MG, Hall BD, Maclean RN, et al. Do some patients with Seckel syndrome have hema-tological problems and/or chromosome breakage? Am J Med Genet 1987; 27: 645–649.
   Google Scholar
• Webster AD, Barnes DE, Arlett CF, et al. Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet 1992; 339: 1508–1509.
   PubMed Web of Science ®Google Scholar
• Yamada M, Matsuura S, Tsukahara M, et al. Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl. Am J Med Genet 2001; 100: 9–12.
   Google Scholar
• Brewer CM, Grace E, Stark GD, et al. Genomic instability associated with limb defects: case report and review of the literature. Clin Dysmorphol 1997; 6: 99–109.
   Google Scholar
• Ugazio AG, Maccario R, Notarangelo LD, et al. Immunology of Down syndrome: a review. Am J Med Genet Suppl 1990; 7: 204–212.
   Google Scholar
• Lockitch G, Singh VK, Puterman ML, et al. Age-related changes in humoral and cell-mediated immunity in Down syndrome children living at home. Pediatr Res 1987; 22: 536–540.
   PubMed Web of Science ®Google Scholar
• Burgio GR, Ugazio A, Nespoli L, et al. Down syndrome: a model of immunodeficiency. Birth Defects Orig Artic Ser 1983; 19: 325–327.
   Google Scholar
• Levin S, Schlesinger M, Handzel Z, et al. Thymic deficiency in Down’s syndrome. Pediatrics 1979; 63: 80–87.
   PubMedGoogle Scholar
• Montagna D, Maccario R, Ugazio AG, et al. Cell-mediated cytotoxicity in Down syndrome: impairment of allogeneic mixed lymphocyte reaction, NK and NK-like activities. Eur J Pediatr 1988; 148: 53–57.
   PubMed Web of Science ®Google Scholar
• Cossarizza A, Monti D, Montagnani G, et al. Precocious aging of the immune system in Down syndrome: alteration of B lymphocytes, T-lymphocyte subsets, and cells with natural killer markers. Am J Med Genet Suppl 1990; 7: 213–218.
   Google Scholar
• Barroeta O, Nungaray L, Lopez-Osuna M, et al. Defective monocyte chemotaxis in children with Down’s syndrome. Pediatr Res 1983; 17: 292–295.
   Google Scholar
• Cuadrado E,Barrena MJ.Immunedys function in Down’s syndrome: primary immune deficiency or early senescence of the immune system? Clin Immunol Immunopathol 1996; 78: 209–214.
   PubMedGoogle Scholar
• Park E, Alberti J, Mehta P, et al. Partial impairment of immune functions in peripheral blood leukocytes from aged men with Down’s syndrome. Clin Immunol 2000; 95: 62–69.
   Google Scholar
• Thomas JA, Graham JM. Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1997; 36: 253–266.
   Google Scholar
• Greenberg F, Elder FF, Haffner P, et al. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet 1988; 43: 605–611.
   Google Scholar
• Emanuel BS, McDonald-McGinn D, Saitta SC, et al. The 22q11.2 deletion syndrome. Adv Pediatr 2001; 48: 39–73.
   PubMedGoogle Scholar
• Ryan AK, Goodship JA, Wilson DI, etal. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34: 798–804.
   PubMed Web of Science ®Google Scholar
• McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999; 10: 11–24.
   Google Scholar
• Moss EM, Batshaw ML,Solot CB,etal. Psychoeducational profileofthe 22q11.2 microdeletion: A complex pattern. J Pediatr 1999; 134: 193–198.
   PubMed Web of Science ®Google Scholar
• Sullivan KE, Jawad AF, Randall P, et al. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol 1998; 86: 141–146.
   PubMedGoogle Scholar
• Smith CA, Driscoll DA, Emanuel BS, et al. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syn-drome/velocardiofacial syndrome). Clin Diagn Lab Immunol 1998; 5: 415–417.
   Google Scholar
• Kornfeld SJ, Zeffren B, Christodoulou CS, et al. DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization. J Allergy Clin Immunol 2000; 105: 983–987.
   Google Scholar
• Sullivan KE, McDonald-McGinn D, Driscoll DA, et al. Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol 1999; 6: 906–911.
   PubMedGoogle Scholar
• Shaikh TH, Kurahashi H, Saitta SC, et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet 2000; 9: 489–501.
   PubMed Web of Science ®Google Scholar
• Yamagishi H, Garg V, Matsuoka R, et al. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999; 283: 1158–1161.
   PubMed Web of Science ®Google Scholar
• Wadey R, McKie J, Papapetrou C, et al. Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11. Am J Hum Genet 1999; 65: 247–249.
   Google Scholar
• Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 2001; 27: 286–291.
   PubMed Web of Science ®Google Scholar
• Lindsay EA, Vitelli F, Su H, et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 2001; 410: 97–101.
   PubMed Web of Science ®Google Scholar
• Merscher S, Funke B, Epstein JA, et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001; 104: 619–629.
   PubMed Web of Science ®Google Scholar
• Chieffo C, Garvey N, Gong W, et al. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics 1997; 43: 267–277.
   Google Scholar
• Daw SC, Taylor C, Kraman M, et al. A common region of 10p deleted in DiGeorge and velo-cardiofacial syndromes. Nat Genet 1996; 13: 458–460.
   PubMed Web of Science ®Google Scholar
• Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, et al. Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet 1998; 6: 213–225.
   Google Scholar
• Bartsch O, Wagner A, Hinkel GK, et al. No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585. Am J Med Genet 1999; 83: 425–426.
   Google Scholar
• Lichtner P, Konig R, Hasegawa T, et al. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med Genet 2000; 37: 33–37.
   PubMedGoogle Scholar
• Van Esch H, Groenen P, Nesbit MA, et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000; 406: 419–422.
   PubMed Web of Science ®Google Scholar
• Zollino M, Di Stefano C, Zampino G, et al. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 2000; 94: 254–261.
   PubMed Web of Science ®Google Scholar
• Wright TJ, Ricke DO, Denison K, et al. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 1997; 6: 317–324.
   Google Scholar
• Hanley-Lopez J, Estabrooks LL, Stiehm R. Antibody deficiency in Wolf-Hirschhorn syndrome. J Pediatr 1998; 133: 141–143.
   PubMed Web of Science ®Google Scholar
• Lorini R, Ugazio AG, Cammareri V, et al. Immunoglobulin levels, T-cell markers, mitogen responsiveness and thymic hormone activity in Turner’s syndrome. Thymus 1983; 5: 61–66.
   Google Scholar
• Cacciari E, Masi M, Fantini MP, et al. Serum immunoglobulins and lymphocyte subpopulations derangement in Turner’s syndrome. J Immunogenet 1981; 8: 337–344.
   PubMedGoogle Scholar
• Donti E, Nicoletti I, Venti G, et al. X-ring Turner’s syndrome with combined immunodeficiency and selective gonadotropin defect. J Endocrinol Invest 1989; 12: 257–263.
   Google Scholar
• Robson SC, Potter PC. Common variable immunodeficiency in association with Turner’s syndrome. J Clin Lab Immunol 1990; 32: 143–146.
   Google Scholar
• al-Attas RA, Rahi AH, Ahmed el FE. Common variable immunodeficiency with CD4+ T lym-phocytopenia and overproduction of soluble IL-2 receptor associated with Turner’s syndrome and dorsal kyphoscoliosis. J Clin Pathol 1997; 50: 876–879.
   Google Scholar
• Stewart JM, Go S, Ellis E, et al. Absent IgA and deletions of chromosome 18. J Med Genet 1970; 7: 11–19.
   Google Scholar
• Wertelecki W, Gerald PS. Clinical and chromosomal studies of the 18q-syndrome. J Pediatr 1971; 78: 44–52.
   Google Scholar
• Slyper AH, Pietryga D. Conversion of selective IgA deficiency to common variable immunodeficiency in an adolescent female with 18q deletion syndrome. Eur J Pediatr 1997; 156: 155–156.
   PubMedGoogle Scholar