Gastrointestinal manifestations of primary immune deficiencies in children

References

• Joshi AY, Iyer VN, Hagan JB, et al. Incidence and temporal trends of primary immunodeficiency: a population- based cohort study. Mayo Clin Proc. 2009;84:16–22.
   PubMed Web of Science ®Google Scholar
• Geha, RS, Notarangelo, LD, Casanova, JL, et al. Primary immunodeficiency diseases: an up-date from the international union of immunological societies primary immunodeficiency diseases classification committee. J. Allergy Clin. Immunol. 2007;120:776–794.
   PubMed Web of Science ®Google Scholar
• Edgar JDM, Buckland M, Guzman D, et al. The United Kingdom Primary Immune deficiency registry: Report of the first 4 years activity 2008–2012. Clin Exp Immunol. 175:68–78. doi:10.1111/cei.12172.
   PubMed Web of Science ®Google Scholar
• McGhee J, Fujihashi K Inside the mucosal immune system. PLOS Biol. 2012;10:e1001397.
   PubMed Web of Science ®Google Scholar
• Mowat AM, Agace WW Regional specialization within the intestinal immune system. Nat Rev Immunol. 2014;14:667–685.
   PubMed Web of Science ®Google Scholar
• Cheng LE, Kanwar B, Tcheurekdjian H, et al. Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome. Clin Immunol. 2009;132:124–131.
   PubMed Web of Science ®Google Scholar
• Schappi MG, Smith VV, Goldblatt D, et al. Colitis in chronic granulomatous disease. Arch. Dis. Child. 2001;84:147–151.
   PubMed Web of Science ®Google Scholar
• Agarwal S, Mayer L. Pathogenesis and treatment of gastrointestinal disease in antibody deficiency syndromes. J Allergy Clin Immunol. 2009;124:658–664.
   PubMed Web of Science ®Google Scholar
• Rohr J, Pannicke U, Doring M, et al. Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. J. Clin immunol. 2010;30:314–320.
   PubMed Web of Science ®Google Scholar
• Melo KM, Dantas E, Moraes-Pinto MI, et al. Primary immunodeficiency may be misdiagnosed as cow's milk allergy: Seven cases referred to a tertiary pediatric hospital. ISRN Pediatr. 2013;2013:470286.
   PubMedGoogle Scholar
• Morio T. Common variable immunodeficiency: An update on aetiology, pathophysiology, and classification Japanese. J Clin Immunol. 2012;(35):14–22.
   Google Scholar
• Cunningham-Rundles C. How I treat common variable immune deficiency. Blood. 2010;116:7–15.
   PubMed Web of Science ®Google Scholar
• Picard C, Al-Herz W, Bousfiha A, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015. J Clin Immunol. 2015;35(8):696–726.
   PubMed Web of Science ®Google Scholar
• Gathmann B, Mahlaoui N, Gérard L, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134:116–26.
   PubMed Web of Science ®Google Scholar
• Malamut G, Verkarre V, Suarez F, et al. The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. Am J Gastroenterol. 2010;105:2262–2267.
   PubMed Web of Science ®Google Scholar
• Lougaris V, Ravelli A, Villanacci V, et al. Gastrointestinal pathologic abnormalities in pediatric- and adult-onset common variable immunodeficiency. Dig Dis Sci. 2015;60:2384–2389.
   PubMed Web of Science ®Google Scholar
• Ramírez-Vargas N, Arablin-Oropeza SE, Mojica-Martínez D. Clinical and immunological features of common variable immunodeficiency in Mexican patients. Allergol Immunopathol. 2014;42:235–240.
   PubMed Web of Science ®Google Scholar
• Resnick E, Moshier E, Godbold J, et al/ Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119:1650–1657.
   PubMed Web of Science ®Google Scholar
• van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: The European experience. PLoS One. 2009;4:e5234. [PubMed: 19381301].
   PubMed Web of Science ®Google Scholar
• Roos D, van Bruggen R, Meischl C. Oxidative killing of microbes by neutrophils. Microbes Infection. 2003;5:1307–1315.
   PubMed Web of Science ®Google Scholar
• Seger RA. Modern management of chronic granulomatous disease. Br J Haematol. 2008;140:255–266.
   PubMed Web of Science ®Google Scholar
• Magnani A, Brosselin P, Beaute J. Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol. 2014;134:665–662.
   Web of Science ®Google Scholar
• Shouval DS, Biswas A, Goettel JA, et al. Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function. Immunity. 2014;40:706–719.
   PubMed Web of Science ®Google Scholar
• Glocker EO, Frede N, Perro M, et al. Infant colitis–it's in the genes. Lancet. 2010;376:1272. [PubMed: 20934598].
   PubMed Web of Science ®Google Scholar
• Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009;361:2033–2045.
   PubMed Web of Science ®Google Scholar
• Cunningham-Rundles C. Physiology of IgA and IgA deficiency. J Clin Immunol. 2001;21:303–309.
   PubMed Web of Science ®Google Scholar
• Pereira LF, Sapina AM, Arroyo J, et al. Prevalence of selective IgA deficiency in Spain: more than we thought. Blood. 1997;90:893.
   PubMed Web of Science ®Google Scholar
• Kanoh T, Mizumoto T, Yasuda N, et al. Selective IgA deficiency in Japanese blood donors: frequency and statistical analysis. Vox Sang. 1986;50:81–86.
   PubMed Web of Science ®Google Scholar
• Heneghan MA, Stevens FM, Cryan EM, et al. Celiac sprue and immunodeficiency states: a 25-year review. J Clin Gastroenterol. 1997;25:421–425.
   PubMed Web of Science ®Google Scholar
• Leman Yel. Selective IgA deficiency. J Clin Immunol. 2010;30:10–16.
   PubMed Web of Science ®Google Scholar
• Diez R, Garcia MJ, Vivas S. Manifestaciones gastrointestinales en pacientes con inmunodeficiencias primarias que cursan con de'ficit de anticuerpos. Gastroenterol Hepatol. 2010;33:347–351.
   PubMedGoogle Scholar
• Qamar N, Fuleihan RL. The Hyper IgM syndromes. Clinic Rev. Allerg Immunol. 2014;46:120–130.
   PubMed Web of Science ®Google Scholar
• Toniati P, Savoldi G, Jones AM, et al. Report of treatment of CD40 ligand deficiency by HSCT the ESID collaborative study on clinical features and molecular analysis of X-linked Hyper- IgM syndrome [abstract]. Eur Soc Immunodeficiencies Newsl. 2002;1157(suppl); F9:4.
   Google Scholar
• Quartier P, Bustamante J, Sanal O, et al. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. Clin Immunol. 2004;110:22–29.
   PubMed Web of Science ®Google Scholar
• Hayward AR, Levy J, Facchetti F, et al. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X- linked immunodeficiency with hyper-IgM. J Immunol. 1997;158:977–983.
   PubMed Web of Science ®Google Scholar
• Kurisu S, Takenawa T. The WASP and WAVE family proteins. Genome Biol. 2009;10(6):226.
   PubMed Web of Science ®Google Scholar
• Folwaczny C, Ruelfs C, Walther J, et al. Ulcerative colitis in a patient with Wiskott-Aldrich syndrome. Endoscopy. 2002;34:840–841.
   PubMed Web of Science ®Google Scholar
• Hsieh KH, Chang MH, Lee CY, et al. Wiskott-Aldrich syndrome and inflammatory bowel disease. Ann Allergy. 1988;60:429–431.
   PubMedGoogle Scholar
• US National Library of Medicine, Genetics Home Reference. XIAP gene. https://ghr.nlm.nih.gov/gene/XIAP 2017
   Google Scholar
• Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol. 2006;117:725–739.
   PubMed Web of Science ®Google Scholar
• Girardelli M, Arrigo S, Barabino A, et al. The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency. BMC Pediatr. 2015;15:208.
   PubMed Web of Science ®Google Scholar
• Bras S, Geha R. IPEX and the role of Foxp3 in the development and function of human Tregs. J. Clin. Invest. 2006;116:1473–1475. doi:10.1172/JCI28880.
   PubMed Web of Science ®Google Scholar
• Hannibal MC, Torgerson T. IPEX Syndrome. Gene Rev. 2004:1–30.
   Google Scholar
• Bennett CL, Ochs HD. IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Curr Opin Pediatr. 2001;13:533–538.
   PubMed Web of Science ®Google Scholar
• Puel A, Picard C, Ku CL, et al. Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol. 2004;16:34–41.
   PubMed Web of Science ®Google Scholar
• Hanson EP, Linda Monaco-Shawver L, Solt LA, et al. Hypomorphic NEMO mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122(6):1169–1177.
   PubMed Web of Science ®Google Scholar
• Bowen T, Cicardi M, Bork K, et al. Hereditary angiodema: a current state- of-the-art review, VII: Canadian Hungarian 2007 international consensus algorithm for the diagnosis, therapy, and management of hereditary angioedema. Ann Allergy Asthma Immunol. 2008;100:S30–S40.
   PubMed Web of Science ®Google Scholar
• Bork K, Staubach P, Eckardt AJ, et al. Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. Am J Gastroenterol. 2006;101:619–627.
   PubMed Web of Science ®Google Scholar
• Tsukada S, Saffran DC, Rawlings DJ, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell. 1993;72:279–290.
   PubMed Web of Science ®Google Scholar
• Atarod L, Raissi A, Aghamohammadi A, et al. A review of gastrointestinal disorders in patients with primary antibody immunodeficiencies during a 10-year period (1990–2000), in children hospital medical center. Iran J Allergy Asthma Immunol. 2003;2:75–79.
   PubMedGoogle Scholar