Severe Combined Immunodeficiences: New and Old Scenarios

REFERENCES

• Notarangelo LD, Fischer A, Geha RS, Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124:1161–1178.
   PubMed Web of Science ®Google Scholar
• Fischer A, Le Deist F, Hacein-Bey-Abina S, Severe combined immunodeficiency: a model disease for molecular immunology and therapy. Immunol Rev. 2005;203:98–109.
   PubMed Web of Science ®Google Scholar
• Palmer K, Green TD, Roberts JL, Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency. J Allergy Clin Immunol. 2007;120:423–428.
   PubMedGoogle Scholar
• Puck JM, Pepper AE, Henthorn PS, Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997;89:1968–1977.
   PubMed Web of Science ®Google Scholar
• Notarangelo LD, Giliani S, Mazza C, Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model. Immunol Rev. 2000;178:39–48.
   PubMed Web of Science ®Google Scholar
• Leonard WJ, Noguchi M, Russell SM, McBride OW. The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor gamma chain as a common gamma chain, gamma c. Immunol Rev. 1994;138:61–86.
   PubMed Web of Science ®Google Scholar
• Du C, Guan Q, Yin Z, Zhong R, Jevnikar AM. IL-2-mediated apoptosis of kidney tubular epithelial cells is regulated by the caspase-8 inhibitor c-FLIP. Kidney Int. 2005;67:1397–1409.
   PubMed Web of Science ®Google Scholar
• Ozawa A, Tada H, Sugawara Y, Endogenous IL-15 sustains recruitment of IL-2Rbeta and common gamma and IL-2-mediated chemokine production in normal and inflamed human gingival fibroblast. J Immunol. 2004;173:5180–5188.
   PubMedGoogle Scholar
• Adriani M, Garbi C, Amodio G, Functional interaction of common gamma chain and growth hormone receptor signaling apparatus. J Immunol. 2006;177:6889–6895.
   PubMedGoogle Scholar
• Amorosi S, Russo I, Amodio G, The cellular amount of the common g-chain influences spontaneous or induced cell proliferation. J Immunol. 2009;182:3304–3309.
   PubMedGoogle Scholar
• Kawamura M, McVicar DW, Johnston JA, Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes. PNAS. 1994;91:6374–6378.
   PubMed Web of Science ®Google Scholar
• Rane SG, Reddy EP. JAK3: a novel JAK kinase associated with terminal differentiation of hematopoietic cells. Oncogene. 1994;9:2415–2423.
   PubMed Web of Science ®Google Scholar
• Cacalano NA, Migone TS, Bazan F, Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain. EMBO J. 1999;18:1549–1558.
   PubMedGoogle Scholar
• Notarangelo L. Immunodeficiencies caused by genetic defects in protein kinases. Curr Opin Immunol. 1996;8:448–453.
   PubMedGoogle Scholar
• Pignata C, Prasad KVS, Hallek M, Phosphorylation of src family lck tyrosine kinase following interleukin-12 activation of human natural killer cells. Cell Immunol. 1995;165:211–216.
   PubMedGoogle Scholar
• Lyszkiewicz M, Pajtasz-Piasecka E. Contribution of interleukin 2 and interleukin 12 receptors in signal transduction during cell activation of the immune system. Postepy Hig Med Dosw. 2002;56:707–731.
   PubMedGoogle Scholar
• Ambrosio R, Fimiani G, Monfregola J, The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter. Gene. 2002;285:311–318.
   PubMed Web of Science ®Google Scholar
• Yao Z, Cui Y, Watford WT, Stat5a/b are essential for normal lymphoid development and differentiation. Proc Natl Acad Sci U S A. 2006;103:1000–1005.
   PubMed Web of Science ®Google Scholar
• Schumacher RF, Mella P, Badolato R, Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. Hum Genet. 2000;106:73–79.
   PubMedGoogle Scholar
• Buckley RH, Schiff RI, Schiff SE, Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997;130:378–387.
   PubMed Web of Science ®Google Scholar
• Mella P, Schumacher RF, Cranston T, de Saint Basile G, Savoldi G, Notarangelo L. Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain. Hum Mutat. 2001;18:355–356.
   PubMedGoogle Scholar
• Notarangelo L, Mella P, Jones A, Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. Hum Mutat. 2001;18:255–263.
   PubMed Web of Science ®Google Scholar
• Fischer A. Severe combined immunodeficiencies. Immunodefic Rev. 1992;3:83–100.
   PubMedGoogle Scholar
• Stephan JL, Vlekova V, Le Deist F, Severe combined immunodeficiency: a retrospective single-centre study of clinical presentation and outcome in 117 patients. J Pediatr. 1993;123:564–572.
   PubMed Web of Science ®Google Scholar
• Di Santo JP, Rieux-Laucat F, Dautry-Varsat A, Fischer A, de Saint Basile G. Defective human interleukin 2 receptor g chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc Natl Acad Sci U S A. 1994;91:9466–9470.
   PubMedGoogle Scholar
• Schmalstieg FC, Leonard WJ, Noguchi M, Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. J Clin Invest. 1995;95:1169–1173.
   PubMedGoogle Scholar
• Lynch M, Baker E, Park LS, Sutherland GR, Goodwin RG. The interleukin-7 receptor gene is at 5p13. Hum Genet. 1992;89:566–568.
   PubMed Web of Science ®Google Scholar
• Kang J, Der SD. Cytokine functions in the formative stages of a lymphocyte's life. Curr Opin Immunol. 2004;16:180–190.
   PubMedGoogle Scholar
• Yu Q, Erman B, Bhandoola A, Sharrow SO, Singer A. In vitro evidence that cytokine receptor signals are required for differentiation of double positive thymocytes into functionally mature CD8+ T cells. J Exp Med. 2003;197:475–487.
   PubMed Web of Science ®Google Scholar
• Giliani S, Mori L, De Saint Basile G, Interleukin-7 receptor a (IL-7Ra) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. Immunol Rev. 2005;203:110–126.
   PubMed Web of Science ®Google Scholar
• Puel A, Leonard WJ. Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease. Curr Opin Immunol. 2000;12:468–473.
   PubMed Web of Science ®Google Scholar
• Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998;20:394–397.
   PubMed Web of Science ®Google Scholar
• Nyhan WL. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005;86:25–33.
   PubMedGoogle Scholar
• Hershfield M. PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. Hum Mutat. 1995;5:107–112.
   PubMed Web of Science ®Google Scholar
• Vihinen M, Arredondo-Vega FX, Casanova JL, Primary immunodeficiency mutation databases. Adv Genet. 2001;43:103–188.
   PubMed Web of Science ®Google Scholar
• Malacarne F, Benicchi T, Notarangelo LD, Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. Eur J Immunol. 2005;35:3376–3386.
   PubMedGoogle Scholar
• Kameoka J, Tanaka T, Nojima Y, Schlossman SF, Morimoto C. Direct association of adenosine deaminase with a T cell activation antigen, CD26. Science. 1993;261:466–469.
   PubMed Web of Science ®Google Scholar
• Hershfield M. Adenosine deaminase deficiency. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. Gene Reviews [Internet]. Seattle (WA): U.S. National Library of Medicine; 2009.
   Google Scholar
• Santisteban I, Arredondo-Vega FX, Kelly S, Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease: contribution of genotype to phenotype. J Clin Invest. 1993;92:2291–2302.
   PubMedGoogle Scholar
• Shovlin CL, Hughes JM, Simmonds HA, Adult presentation of adenosine deaminase deficiency. Lancet. 1993;341:1471.
   PubMedGoogle Scholar
• Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet. 1998;63:1049–1059.
   PubMed Web of Science ®Google Scholar
• Booth C, Hershfield M, Notarangelo L, Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol. 2007;123:139–147.
   Google Scholar
• Aiuti A, Cattaneo F, Galimberti S, Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009;360:447–458.
   PubMed Web of Science ®Google Scholar
• Gaspar HB, Bjorkegren E, Parsley K, Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning. Mol Ther. 2006;14:505–513.
   PubMed Web of Science ®Google Scholar
• Pannicke U, Tuchschmid P, Friedrich W, Bartram CR, Schwarz K. Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. Hum Genet. 1996;98:706–709.
   PubMed Web of Science ®Google Scholar
• Aytekin C, Germeshausen M, Tuygun N, Tanir G, Dogu F, Ikinciogullari A. Kostmann disease with developmental delay in three patients. Eur J Pediatr. 2010;169:759–762.
   PubMedGoogle Scholar
• Alangari A, Al-Harbi A, Al-Ghonaium A, Santisteban I, Hershfield M. Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. Ann Saudi Med. 2009;29:309–312.
   PubMed Web of Science ®Google Scholar
• Dror Y, Grunebaum E, Hitzler J, Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology. Pediatr Res. 2004;55:472–477.
   PubMedGoogle Scholar
• Markert ML. Purine nucleoside phosphorylase deficiency. Immunodefic Rev. 1991;3:45–81.
   PubMedGoogle Scholar
• Grunebaum E, Zhang J, Roifman CM. Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency. Nucleosides Nucleotides Nucleic Acids. 2004;23:1411–1415.
   PubMed Web of Science ®Google Scholar
• Bassing CH, Swat W, Alt FW. The mechanism and regulation of chromosomal V(D)J recombination. Cell. 2002;109:S45-S55.
   Google Scholar
• Schwarz K, Gauss GH, Ludwig L, RAG mutations in human B cell-negative SCID. Science. 1996;274:97–99.
   PubMed Web of Science ®Google Scholar
• Ehl S, Schwarz K, Enders A, A variant of SCID with specific immune responses and predominance of gamma delta T cells. J Clin Invest. 2005;115:3140–3148.
   PubMed Web of Science ®Google Scholar
• de Villartay JP, Lim A, Al-Mousa H, A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest. 2005;115:3291–3299.
   PubMedGoogle Scholar
• Schuetz C, Huck K, Gudowius S, An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med. 2008;8:2030–2038.
   Google Scholar
• Niehues T, Perez-Becker R, Schuetz C. More than just SCID—the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2. Clin Immunol. 2010;135:183–192.
   PubMedGoogle Scholar
• Rivera-Munoz P, Malivert L, Derdouch S, DNA repair and the immune system: from V(D)J recombination to aging lymphocytes. Eur J Immunol. 2007;37:S71–S82.
   Google Scholar
• Huang Y, Giblin W, Kubec M, Impact of a hypomorphic Artemis disease allele on lymphocyte development, DNA end processing, and genome stability. J Exp Med. 2009;206:893–908.
   PubMedGoogle Scholar
• van der Burg M, van Veelen LR, Verkaik NS, A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest. 2006;116:137–145.
   PubMed Web of Science ®Google Scholar
• Emile JF, Geissmann F, Martin OC, Langerhans cell deficiency in reticular dysgenesis. Blood. 2000;96:58–62.
   PubMedGoogle Scholar
• Pannicke U, Hönig M, Hess I, Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet. 2009;41:101–105.
   PubMedGoogle Scholar
• Dzeja PP, Terzic A. Phosphotransfer networks and cellular energetics. J Exp Biol. 2003;206:2039–2047.
   PubMed Web of Science ®Google Scholar
• Schlauderer GJ, Proba K, Schulz GE. Structure of a mutant adenylate kinase ligated with an ATP-analogue showing domain closure over ATP. J Mol Biol. 1996;256:223–227.
   PubMedGoogle Scholar
• Köhler C, Gahm A, Noma T, Nakazawa A, Orrenius S, Zhivotovsky B. Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis. FEBS Lett. 1999;447:10–12.
   PubMedGoogle Scholar
• Lagresle-Peyrou C, Six EM, Picard C, Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet. 2009;41:106–111.
   PubMed Web of Science ®Google Scholar
• Chan AC, Iwashima M, Turck CW, Weiss A. ZAP-70: a 70 kD protein–tyrosine kinase that associates with the TCR zeta chain. Cell. 1992;71:649–662.
   PubMed Web of Science ®Google Scholar
• Hivroz C, Fischer A. Immunodeficiency diseases. Multiple roles for ZAP-70. Curr Biol. 1994;4:731–733.
   PubMed Web of Science ®Google Scholar
• Weiss A. T cell antigen receptor signal transduction: a tale of tails and cytoplasmic protein-tyrosine kinases. Cell. 1993;73:209–212.
   PubMed Web of Science ®Google Scholar
• Miosge LA and Goodnow CC. Genes, pathways and checkpoints in lymphocyte development and homeostasis. Immunol Cell Biol 2005;83:318–335.
   PubMed Web of Science ®Google Scholar
• Elder ME. ZAP-70 and defects of T-cell receptor signaling. Semin Hematol. 1998;35:310–320.
   PubMedGoogle Scholar
• Arpaia E, Shahar M, Dadi H, Cohen A, Roifman CM. Defective T cell receptor signaling and CD8+ thymic selection in humans lacking Zap-70 kinase. Cell. 1994;76:947–958.
   PubMed Web of Science ®Google Scholar
• Turul T, Tezcan I, Artac H, Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur J Pediatr. 2009;168:87–93.
   PubMed Web of Science ®Google Scholar
• Katamura K, Tai G, Tachibana T, Existence of activated and memory CD4+ T cells in peripheral blood and their skin infiltration in CD8 deficiency. Clin Exp Immunol. 1999;115:124–130.
   PubMed Web of Science ®Google Scholar
• Parry DE, Blumenthal J, Tomar RH, Horowitz SD, Elder ME, Gern GE. A 3-year-old boy with ZAP-70 deficiency, thrombocytopenia and ulcerative colitis. J Allergy Clin Immunol. 1996;97:390.
   Google Scholar
• Zimmer J, Andrès E, Donato L, Hanau D, Hentges F, de la Salle H. Clinical and immunological aspects of HLA class I deficiency. Q J Med. 2005;98:719–727.
   Google Scholar
• Grommé M, Neefjes J. Antigen degradation or presentation by MHC class I molecules via classical and non-classical pathways. Mol Immunol. 2002;39:181–202.
   PubMed Web of Science ®Google Scholar
• Pamer E, Cresswell P. Mechanisms of MHC class I—restricted antigen processing. Annu Rev Immunol. 1998;16:323–358.
   PubMed Web of Science ®Google Scholar
• Yewdell JW, Norbury CC, Bennink JR. Mechanisms of exogenous antigen presentation by MHC class I molecules in vitro and in vivo: implications for generating CD8+ T cell responses to infectious agents, tumors, transplants, and vaccines. Adv Immunol. 1999;73:1–77.
   PubMed Web of Science ®Google Scholar
• York IA, Rock KL. Antigen processing and presentation by the class I major histocompatibility complex. Annu Rev Immunol. 1996;14:369–396.
   PubMed Web of Science ®Google Scholar
• Watts C, Powis S. Pathways of antigen processing and presentation. Rev Immunogenet. 1999;1:60–74.
   PubMedGoogle Scholar
• de la Salle H, Zimmer J, Fricker D, HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. J Clin Invest. 1999;103:R9-R13.
   PubMedGoogle Scholar
• Gadola SD, Moins-Teisserenc HT, Trowsdale J, Gross WL, Cerundolo V. TAP deficiency syndrome. Clin Exp Immunol. 2000;121:173–178.
   PubMedGoogle Scholar
• de la Salle H, Hanau D, Fricker D, Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science. 1994;266:1464.
   Google Scholar
• Furukawa H, Murata S, Yabe T, Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. J Clin Invest. 1999;103:755–758.
   PubMedGoogle Scholar
• Moins-Teisserenc HT, Gadola SD, Cella M, Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. Lancet. 1999;354:1598–1603.
   PubMedGoogle Scholar
• de la Salle H, Saulquin X, Mansour I, Asymptomatic deficiency in the peptide transporter associated to antigen processing (TAP). Clin Exp Immunol. 2002;128:525–531.
   PubMedGoogle Scholar
• Furukawa H, Yabe T, Watanabe K, Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). Hum Immunol. 1999;60:32–40.
   PubMedGoogle Scholar
• Donato L, de la Salle H, Hanau D, Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis. J Pediatr. 1995;127:895–900.
   PubMedGoogle Scholar
• Plebani A, Monafo V, Cattaneo R, Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers. J Am Acad Dermatol. 1996;35:814–818.
   PubMedGoogle Scholar
• Yabe T, Kawamura S, Sato M, A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. Blood. 2002;100:1496–1498.
   PubMedGoogle Scholar
• Ortmann B, Copeman J, Lehner PJ, A critical role for tapasin in the assembly and function of multimeric MHC class I-TAP complexes. Science. 1997;277:1306–1309.
   PubMed Web of Science ®Google Scholar
• Schoenhals GJ, Krishna RM, Grandea AGr, Retention of empty MHC class I molecules by tapasin is essential to reconstitute antigen presentation in invertebrate cells. EMBO J. 1999;18:743–753.
   PubMed Web of Science ®Google Scholar
• Herberg JA, Sgouros J, Jones T, Genomic analysis of the Tapasin gene, located close to the TAP loci in the MHC. Eur J Immunol. 1998;28:459–467.
   PubMedGoogle Scholar
• Grandea AGr, Van Kaer L. Tapasin: an ER chaperone that controls MHC class I assembly with peptide. Trends Immunol. 2001;22:194–199.
   PubMedGoogle Scholar
• Copeman J, Bangia N, Cross JC, Cresswell P. Elucidation of the genetic basis of the antigen presentation defects in the mutant cell line .220 reveals polymorphism and alternative splicing of the tapasin gene. Eur J Immunol. 1998;28:3783–3791.
   Google Scholar
• Grandea AGr, Golovina TN, Hamilton SE, Impaired assembly yet normal trafficking of MHC class I molecules in Tapasin mutant mice. Immunity. 2000;13:213–222.
   PubMed Web of Science ®Google Scholar
• Garbi N, Tan P, Diehl AD, Impaired immune responses and altered peptide repertoire in tapasin-deficient mice. Nat Immunol. 2000;1:234–238.
   PubMed Web of Science ®Google Scholar
• Klein C, Lisowska-Grospierre B, LeDeist F, Fischer A, Griscelli C. Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome. J Pediatr. 1993;123:921–928.
   PubMed Web of Science ®Google Scholar
• Reith W, Steimle V, Lisowska-Grospierre B, Fischer A, Mach B. Molecular basis of major histocompatibility class II deficiency. In: Ochs H, Puck J, Smith E, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York: Oxford University Press; 1999: 167–180.
   Google Scholar
• Griscelli C, Lisowska-Grospierre B, Mach B. Combined immunodeficiency with defective expression in MHC class II genes. In: Rosen FS, Seligman M, eds. Immunodeficiencies. Chur, Switzerland: Harwood Academic; 1993: 141–154.
   Google Scholar
• Mach B, Steimle V, Martinez-Soria E and Reith W. Regulation of MHC class II genes: lessons from a disease. Annu Rev Immunol. 1996;14:301–331.
   PubMed Web of Science ®Google Scholar
• Elhasid R, Etzioni A. Major histocompatibility complex class II deficiency: a clinical review. Blood Rev. 1996;10:242–248.
   PubMedGoogle Scholar
• Trowsdale J. Genomic structure and function in the MHC. Trends Genet. 1993;9:117–122.
   PubMed Web of Science ®Google Scholar
• Jameson SC, Hogquist KA, Bevan MJ. Positive selection of thymocytes. Annu Rev Immunol. 1995;13:93–126.
   PubMed Web of Science ®Google Scholar
• Viret C, Janeway CAJ. MHC and T cell development. Rev Immunogenet. 1999;1:91–104.
   PubMedGoogle Scholar
• Cresswell P. Assembly, transport, and function of MHC class II molecules. Annu Rev Immunol. 1994;12:259–293.
   PubMed Web of Science ®Google Scholar
• Benoist C, Mathis D. Regulation of major histocompatibility complex class II genes: X, Y and other letters of the alphabet. Annu Rev Immunol. 1990;8:681–715.
   PubMed Web of Science ®Google Scholar
• Ting JP, Baldwin AS. Regulation of MHC gene expression. Curr Opin Immunol. 1993;5:8–16.
   PubMed Web of Science ®Google Scholar
• Boss JM. Regulation of transcription of MHC class II genes. Curr Opin Immunol. 1997;9:107–113.
   PubMedGoogle Scholar
• Gladstone P, Pious D. Identification of a transacting function regulation HLA-DR expression in a DR-negative B cell variant. Somatic Cell Genet. 1980;6:285–298.
   PubMedGoogle Scholar
• Accolla RS, Scarpellino L, Carra G, Guardiola J. Trans-acting element(s) operating across species barriers positively regulate expression of major histocompatibility complex class II genes. J Exp Med. 1985;162:1117–1133.
   PubMed Web of Science ®Google Scholar
• Moreno CS, Rogers EM, Brown JA, Boss JM. Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex. J Immunol. 1997;158:5841–5848.
   PubMedGoogle Scholar
• Steimle V, Durand B, Barras E, A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev. 1995;9:1021–1032.
   PubMedGoogle Scholar
• Durand B, Sperisen P, Emery P, RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J. 1997;16:1045–1055.
   PubMedGoogle Scholar
• Masternak K, Barras E, Zufferey M, A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet. 1998;20:273–277.
   PubMedGoogle Scholar
• Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM. RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. Immunity. 1999;10:153–162.
   PubMedGoogle Scholar
• Moreno CS, Beresford GW, Louis-Plence P, Morris AC, Boss JM. CREB regulates MHC class II expression in a CIITA-dependent manner. Immunity. 1999;10:143–151.
   PubMedGoogle Scholar
• Reith W, Siegrist CA, Durand B, Barras E, Mach B. Function of major histocompatibility complex class II promoters requires cooperative binding between factors RFX and NF-Y. Proc Natl Acad Sci U S A. 1994;91:554–558.
   PubMedGoogle Scholar
• Lennon AM, Ottone C, Rigaud G, Isolation of a B-cell-specific promoter for the human class II transactivator. Immunogenetics. 1997;45:266–273.
   PubMedGoogle Scholar
• Steimle V, Siegrist CA, Mottet A, Lisowska-Grospierre B, Mach B. Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA. Science. 1994;265:106–109.
   PubMed Web of Science ®Google Scholar
• Steimle V, Otten LA, Zufferey M, Mach B. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell. 1993;75:135–146.
   PubMed Web of Science ®Google Scholar
• Chen X, Jensen PE. MHC class II antigen presentation and immunological abnormalities due to deficiency of MHC class II and its associated genes. Exp Mol Pathol. 2008;85:40–44.
   PubMedGoogle Scholar
• Fischer A. Human primary immunodeficiency diseases: a perspective. Nat Immunol. 2004;5:23–30.
   PubMed Web of Science ®Google Scholar
• Reith W, Mach B. The bare lymphocyte syndrome and the regulation of MHC expression. Annu Rev Immunol. 2001;19:331–373.
   PubMed Web of Science ®Google Scholar
• Wolf HM, Hauber I, Gulle H, Twin boys with major histocompatibility complex class II deficiency but inducible immune responses. N Engl J Med. 1995;332:86–90.
   PubMedGoogle Scholar
• Uetrecht AC, Bear JE. Coronins: the return of the crown. Trends Cell Biol. 2006;16:421–426.
   PubMed Web of Science ®Google Scholar
• Foger N, Rangell L, Danilenko DM, Chan AC. Requirement for coronin 1 in T lymphocyte trafficking and cellular homeostasis. Science. 2006;313:839–842.
   Web of Science ®Google Scholar
• Shiow LR, Roadcap DW, Paris K, The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat Immunol. 2008;9:1307–1315.
   PubMed Web of Science ®Google Scholar
• Ochs HD, Notarangelo LD. Structure and function of the Wiskott-Aldrich syndrome protein. Curr Opin Hematol. 2005;12:284–291.
   PubMedGoogle Scholar
• Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM. Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol. 2009;131:24–30.
   PubMed Web of Science ®Google Scholar
• Ahmed Z, Shaw G, Sharma VP, Yang C, McGowan E, Dickson DW. Actin-binding proteins coronin-1a and IBA-1 are effective microglial markers for immunohistochemistry. J Histochem Cytochem. 2007;55:687–700.
   PubMed Web of Science ®Google Scholar
• Ruusala A, Aspenstrom P. Isolation and characterisation of DOCK8, a member of the DOCK180- related regulators of cell morphology. FEBS Lett. 2004;572:159–166.
   PubMedGoogle Scholar
• Cote JF, Vuori K. Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange. J Cell Sci. 2002;115:4901–4913.
   PubMed Web of Science ®Google Scholar
• Yang J, Zhang Z, Roe SM, Marshall CJ, Barford D. Activation of Rho GTPases by DOCK exchange factors is mediated by a nucleotide sensor. Science. 2009;325:1398–1402.
   Google Scholar
• Engelhardt KR, McGhee S, Winkler S, Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol. 2009;124:1289–1302.
   PubMed Web of Science ®Google Scholar
• de Silva MG, Elliott K, Dahl HH, Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. J Med Genet. 2003;40:733–740.
   PubMed Web of Science ®Google Scholar
• Watabe-Uchida M, John KA, Janas JA, Newey SE, Van Aelst L. The Rac activator DOCK7 regulates neuronal polarity through local phosphorylation of stathmin/Op18. Neuron. 2006;51:727–739.
   PubMedGoogle Scholar
• Govek EE, Newey SE, Van Aelst L. The role of the Rho GTPases in neuronal development. Genes Dev. 2005;19:1–49.
   PubMed Web of Science ®Google Scholar
• Benarroch EE. Rho GTPases: role in dendrite and axonal growth, mental retardation, and axonal regeneration. Neurology. 2007;68:1315–1318.
   PubMedGoogle Scholar
• Bouma G, Burns SO, Thrasher AJ. Wiskott-Aldrich syndrome: immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation. Immunobiology. 2009;214:778–790.
   PubMed Web of Science ®Google Scholar
• Pignata C, Fiore M, Guzzetta V, 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
• Pignata C. A lesson to unraveling complex aspects of novel immunodeficiencies from the human equivalent of the nude/SCID phenotype. J Hematother Stem Cell Res. 2002;11:409–414.
   PubMedGoogle Scholar
• Frank J, Pignata C, Panteleyev AA, Exposing the human nude phenotype. Nature. 1999;398:473–474.
   PubMedGoogle Scholar
• Festing MFW, May D, Connors TA, Lovell D, Sparrow S. An athymic nude mutation in the rat. Nature. 1978;274:365–366.
   PubMed Web of Science ®Google Scholar
• Huth M, Schlake T, Boehm T. Transposon-induced splicing defect in the rat nude gene. Immunogenetics. 1997;45:282–283.
   PubMedGoogle Scholar
• Hofmann M, Harris M, Juriloff D, Boehm T. Spontaneous mutations in SELH/Bc mice due to insertions of early transposons: molecular characterization of null alleles at the nude and albino loci. Genomics. 1998;52:107–109.
   PubMedGoogle Scholar
• Auricchio L, Adriani M, Frank J, Busiello R, Christiano A, Pignata C. Nail distrophy associated with a heterozygous mutation of the Nude/SCID human FOXN1 (WHN) gene. Arch Dermatol. 2005;141:647–648.
   PubMed Web of Science ®Google Scholar
• Lee D, Prowse DM, Brissette JL. Association between mouse nude gene expression and the initiation of epithelial terminal differentiation. Dev Biol. 1999;208:362–374.
   PubMedGoogle Scholar
• Mecklenburg L, Paus R, Halata Z, Bechtold LS, Fleckman P, Sundberg JP. FOXN1 is critical for onycholemmal terminal differentiation in nude (Foxn1) mice. J Invest Dermatol. 2004;123:1001–1011.
   PubMedGoogle Scholar
• Adriani M, Martinez-Mir A, Fusco F, Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. Ann Hum Genet. 2004;68:265–268.
   PubMed Web of Science ®Google Scholar
• Amorosi S, D'Armiento M, Calcagno G, FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. Clin Genet. 2008;73:380–384.
   PubMed Web of Science ®Google Scholar
• Henderson RS, McEwan B and Pantelouris EM. Pitutary and cerebellum of nude mice. Thymus. 1981;3:359–368.
   PubMedGoogle Scholar
• Pignata C, Gaetaniello L, Masci AM, Human equivalent of the mouse nude/SCID phenotype: long-term evaluation of immunological reconstitution after bone marrow transplantation. Blood. 2001;97:880–885.
   PubMedGoogle Scholar
• Gross TG, Shiramizu B. Lymphoproliferative disorders and malignancies related to immunodeficiencies. In: Pizzo PA, Poplack DG, eds. Principles and Practice of Pediatric Oncology. Philadelphia: Lippincott Williams & Wilkins; 2005.
   Google Scholar
• Filipovich AH, Mathur A, Kamat D, Kersey JH, Shapiro RS. Lymphoproliferative disorders and other tumors complicating immunodeficiencies. Immunodeficiency. 1994;5:91–112.
   PubMedGoogle Scholar
• Mueller BU, Sei S, Anderson B, Comparison of virus burden in blood and sequential lymph node biopsy specimens from children infected with human immunodeficiency virus. J Pediatr. 1996;129:410–418.
   PubMedGoogle Scholar
• Rodriguez-Abreu D, Bordoni A, Zucca E. Epidemiology of hematological malignancies. Ann Oncol. 2007;18 (Suppl 1):i3–i8.
   PubMedGoogle Scholar
• Rezaei N, Hedayat M, Aghamohammadi A, Nichols KE. Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies. J Allergy Clin Immunol. 2011;127:1329–1341.
   PubMed Web of Science ®Google Scholar
• Notarangelo LD. PIDs and cancer: an evolving story. Blood. 2010;116:1189–1190.
   PubMedGoogle Scholar
• Yong PF, Tarzi M, Chua I, Grimbacher B, Chee R. Common variable immunodeficiency: an update on etiology and management. Immunol Allergy Clin North Am. 2008;28:367–386.
   PubMedGoogle Scholar
• Poodt AE, Driessen GJ, de Klein A, van Dongen JJ, van der Burg M, de Vries E. TACI mutations and disease susceptibility in patients with common variable immunodeficiency. Clin Exp Immunol. 2009;156:35–39.
   PubMed Web of Science ®Google Scholar
• van Zelm MC, Smet J, Adams B, CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest. 2010;120:1265–1274.
   PubMed Web of Science ®Google Scholar
• Pozzi N, Gaetaniello L, Martire B, Defective surface expression of attractin on T cells in patients with common variable immunodeficiency (CVID). Clin Exp Immunol. 2001;123:99–104.
   PubMed Web of Science ®Google Scholar
• Taylor AM, Metcalfe JA, Thick J, Mak YF. Leukemia and lymphoma in ataxia telangiectasia. Blood. 1996;87:423–438.
   PubMed Web of Science ®Google Scholar
• Vigliano I, Fusco A, Palamaro L, g Chain transducing element: a shared pathway between endocrine and immune system. Cell Immunol. 2011;269:10–15.
   PubMedGoogle Scholar
• Zenatti PP, Ribeiro D, Li W, Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia. Nat Genet. 2011;43:932–939.
   PubMed Web of Science ®Google Scholar
• Uckun FM, Pitt J, Qazi S. JAK3 pathway is constitutively active in B-lineage acute lymphoblastic leukemia. Expert Rev Anticancer Ther. 2011;11:37–48.
   PubMed Web of Science ®Google Scholar
• Amman AJ, Wara DW, Pillarisetty RJ, Talal N. The prevalence of autoantibodies in T-cell, and phagocytic immunodeficiency disorders. Clin Immunol Immunopathol. 1979;14:456–466.
   PubMedGoogle Scholar
• Carneiro-Sampaio M, Coutinho A. Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies. Adv Immunol. 2007;95:51–82.
   PubMed Web of Science ®Google Scholar
• Notarangelo LD, Gambineri E, Badolato R. Immunodeficiencies with autoimmune consequences. Adv Immunol. 2006;89:321–370.
   PubMedGoogle Scholar
• Fairweather D, Kaya Z, Shellan GR, Lawson CM, Rose NR. From infection to autoimmunity. J Autoimmune. 2001;16:341–345.
   PubMed Web of Science ®Google Scholar
• Westerberg LS, Klein C, Snapper SB. Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency: lessons learned from monogenic disorders in mice and men. Curr Opin Immunol. 2008;20:646–654.
   PubMed Web of Science ®Google Scholar
• Omenn GS. Familial reticuloendotheliosis with eosinophilia. N Engl J Med. 1965;273:427–432.
   PubMed Web of Science ®Google Scholar
• Villa A, Sobacchi C, Notarangelo LD, V(D)J recombination defects in lymphocytes: a severe immunodeficiency with a spectrum of clinical presentations due to RAG mutations. Blood. 2001;97:81–88.
   PubMed Web of Science ®Google Scholar
• Fiore M, Pera C, Delfino L, Scotese I, Ferrara GB, C. P. DNA typing of DQ and DR alleles in IgA-deficient subjects. Eur J Immunogenet. 1995;22:403–411.
   PubMedGoogle Scholar
• Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92:34–48.
   PubMed Web of Science ®Google Scholar
• Uluhan A, Sager D, Jasin HE. Juvenile rheumatoid arthritis and common variable hypogammaglobulinemia. J Rheumatol. 1998;25:1205–1210.
   PubMedGoogle Scholar
• Ochs HD. The Wiskott-Aldrich syndrome. Israel Med As J. 2002;4:379–384.
   PubMedGoogle Scholar
• Levy J, Espanol-Boren T, Thomas C, Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr. 1997;131:47–54.
   PubMed Web of Science ®Google Scholar
• Cunningham-Rundles C. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol. 1989;9:22–33.
   PubMed Web of Science ®Google Scholar
• Meffre E, Wardemann H. B-cell tolerance checkpoints in health and autoimmunity. Curr Opin Immunol. 2008;20:632–638.
   PubMed Web of Science ®Google Scholar