Primary Immunodeficiency Masquerading as Allergic Disease

Immunology and Allergy Clinics of North America

Volumn 35, Issue 4, 2015, Pages 767-778

  Chan, Sanny K ^a   Gelfand, Erwin W ^a  

^a DEPARTMENT OF MEDICINE   (United States)

Author keywords

Allergic disease; Corticosteroids; Eczema; Elevated IgE; Primary immune deficiency

Indexed keywords

CORTICOSTEROID; CYCLOSPORIN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; INFLIXIMAB; METHOTREXATE; RITUXIMAB; STAT3 PROTEIN; STEROID; TACROLIMUS;

AUTOSOMAL DOMINANT HYPER IGE SYNDROME; AUTOSOMAL RECESSIVE HYPER IGE SYNDROME; BLOOD TRANSFUSION; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE PREDISPOSITION; ECZEMA; ENDOSCOPY; EOSINOPHIL; GENE MUTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; HYPER IGE SYNDROME; IMMUNOSUPPRESSIVE TREATMENT; INFECTION CONTROL; INFECTION PREVENTION; IPEX SYNDROME; LEUKOCYTE COUNT; OMENN SYNDROME; ONSET AGE; PARENTERAL NUTRITION; PATHOPHYSIOLOGY; PREVALENCE; PRIORITY JOURNAL; REVIEW; WISKOTT ALDRICH SYNDROME; COMPLICATION; DISEASE MANAGEMENT; HYPERSENSITIVITY; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; INFANT; NEWBORN;

DIAGNOSIS, DIFFERENTIAL; DISEASE MANAGEMENT; ECZEMA; HUMANS; HYPERSENSITIVITY; IMMUNOGLOBULIN E; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; INFANT, NEWBORN;

EID: 84943818270     PISSN: 08898561     EISSN: 15578607     Source Type: Journal    
DOI: 10.1016/j.iac.2015.07.008     Document Type: Review

References (47)

1. Rezaei N., Bonilla F., Sullivan K., et al. An introduction to primary immunodeficiency diseases. Primary Immunodeficiency Diseases: Definition, Diagnosis, Management 2008, 1-38. Springer-Verlag, Berlin. 5th edition. N. Rezaei, A. Aghamohammadi, L. Notarangelo (Eds.).
2. Boyle J., Buckley R. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 2007, 27(5):497-502.
3. Pai S.-Y., Logan B.R., Griffith L.M., et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med 2014, 371(5):434-446.
4. Ozcan E., Notarangelo L.D., Geha R.S. Primary immune deficiencies with aberrant IgE production. J Allergy Clin Immunol 2008, 122(6):1054-1062. [quiz: 1063-4].
5. Laughter D., Istvan J., Tofte S., et al. The prevalence of atopic dermatitis in Oregon schoolchildren. J Am Acad Dermatol 2000, 43(4):649-655.
6. Leung D.Y. Atopic dermatitis: the skin as a window into the pathogenesis of chronic allergic diseases. J Allergy Clin Immunol 1995, 96(3):302-318. [quiz: 319].
7. Merithew E., Hatherly S., Dumas J.J., et al. Structural plasticity of an invariant hydrophobic triad in the switch regions of Rab GTPases is a determinant of effector recognition. J Biol Chem 2001, 276(17):13982-13988.
8. Rystedt I. Prognostic factors in atopic dermatitis. Acta Derm Venereol 1985, 65(3):206-213.
9. Aleman K., Noordzij J.G., de Groot R., et al. Reviewing Omenn syndrome. Eur J Pediatr 2001, 160(12):718-725.
10. Omenn G. Familial reticuloendotheliosis with eosinophilia. N Engl J Med 1965, 273:427-432.
11. Orpha.net. Omenn syndrome. Available at: . Accessed February 10, 2015. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN%26data_id=10452%26Disease_Disease_Search_diseaseGroup=omen%26Disease_Disease_Search_diseaseType=Pat%26Disease%28s%29/group%20of%20diseases=Omenn-syndrome%26title=Omenn-syndrome%26search=Disease_Search_Simp.
12. Ege M., Ma Y., Manfras B., et al. Omenn syndrome due to ARTEMIS mutations. Blood 2005, 105(11):4179-4186.
13. Gomez L., Le Deist F., Blanche S., et al. Treatment of Omenn syndrome by bone marrow transplantation. J Pediatr 1995, 127(1):76-81.
14. Powell B.R., Buist N.R., Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 1982, 100(5):731-737.
15. Orpha.net. Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome. Available at: . Accessed February 10, 2015. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN%26data_id=10440%26Disease_Disease_Search_diseaseGroup=IPEX%26Disease_Disease_Search_diseaseType=Pat%26Disease%28s%29/group%20of%20diseases=Immune-dysregulation-polyendocrinopathy-enteropathy-X-linked-.
16. Ricciardelli I., Lindley K.J., Londei M., et al. Anti tumour necrosis-alpha therapy increases the number of FOXP3 regulatory T cells in children affected by Crohn's disease. Immunology 2008, 125(2):178-183.
17. Van der Vliet H.J.J., Nieuwenhuis E.E. IPEX as a result of mutations in FOXP3. Clin Dev Immunol 2007, 2007:89017.
18. Bindl L., Torgerson T., Perroni L., et al. Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). J Pediatr 2005, 147(2):256-259.
19. Baud O., Goulet O., Canioni D., et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 2001, 344(23):1758-1762.
20. Bacchetta R., Passerini L., Gambineri E., et al. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest 2006, 116(6):1713-1722.
21. Rao A., Kamani N., Filipovich A., et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood 2007, 109(1):383-385.
22. Aldrich R., Steinberg A., Campbell D. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954, 13(2):133-139.
23. Perry G.S., Spector B.D., Schuman L.M., et al. The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr 1980, 97(1):72-78.
24. Symons M., Derry J.M., Karlak B., et al. Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell 1996, 84(5):723-734.
25. Simon H.U., Mills G.B., Hashimoto S., et al. Evidence for defective transmembrane signaling in B cells from patients with Wiskott-Aldrich syndrome. J Clin Invest 1992, 90(4):1396-1405.
26. Wada T., Schurman S.H., Otsu M., et al. Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc Natl Acad Sci USA 2001, 98(15):8697-8702.
27. Boztug K., Germeshausen M., Avedillo Díez I., et al. Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. Clin Genet 2008, 74(1):68-74.
28. Boztug K., Schmidt M., Schwarzer A., et al. Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med 2010, 363(20):1918-1927.
29. Aiuti A., Biasco L., Scaramuzza S., et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science 2013, 341(6148):1233151.
30. Grimbacher B., Holland S.M., Gallin J.I., et al. Hyper-IgE syndrome with recurrent infections-an autosomal dominant multisystem disorder. N Engl J Med 1999, 340(9):692-702.
31. Davis S.D., Schaller J., Wedgwood R.J. Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. Lancet 1966, 1(7445):1013-1015.
32. Grimbacher B., Schäffer A.A., Holland S.M., et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet 1999, 65(3):735-744.
33. Woellner C., Gertz E.M., Schäffer A.A., et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol 2010, 125(2):424-432.e8.
34. Orpha.net. Autosomal dominant hyper-IgE syndrome. Available at: . Accessed February 10, 2015. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2314&lng=EN.
35. Siegel A.M., Heimall J., Freeman A.F., et al. A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. Immunity 2011, 35(5):806-818.
36. Boos A.C., Hagl B., Schlesinger A., et al. Atopic dermatitis, STAT3- and DOCK8-hyper-IgE syndromes differ in IgE-based sensitization pattern. Allergy 2014, 69:943-953.
37. Renner E.D., Puck J.M., Holland S.M., et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 2004, 144(1):93-99.
38. Minegishi Y., Saito M., Morio T., et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006, 25(5):745-755.
39. Woellner C., Schäffer A.A., Puck J.M., et al. The hyper IgE syndrome and mutations in TYK2. Immunity 2007, 26(5):535. [author reply: 536].
40. Orpha.net. Autosomal recessive hyper-IgE syndrome. Available at: . Accessed February 10, 2015. http://www.orpha.net/consor4.01/www/cgi-bin/Disease_Search.php?lng=EN%26data_id=17857%26Disease_Disease_Search_diseaseGroup=arHIES%26Disease_Disease_Search_diseaseType=Pat%26Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hyper-IgE-syndrome%13AR-HIES-%26tit.
41. Zhang Q., Dove C., Hor J., et al. DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity. J Exp Med 2014, 211(13):2549-2566.
42. Sabry A., Hauk P., Jing H., et al. Vaccine strain varicella-zoster virus-induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency. J Allergy Clin Immunol 2014, 133(4):1225-1227.
43. Van der Velden V. Glucocorticoids: mechanisms of action and anti-inflammatory potential in asthma. Mediators Inflamm 1998, 7(4):229-237.
44. Bayer DK, Seth N, Pearson N, et al. Atypical SCID with CD4 lymphopenia, hypergammaglobulinemi, and neutropenia presenting with disseminated vaccine-strain varicella and rubella infections. In: 2013 CIS Annual Meeting: Regulation & Dysregulation of Immunity. Miami, April 25-28, 2013.
45. Asai E., Wada T., Sakakibara Y., et al. Analysis of mutations and recombination activity in RAG-deficient patients. Clin Immunol 2011, 138(2):172-177.
46. Dowell S.F., Bresee J.S. Severe varicella associated with steroid use. Pediatrics 1993, 92(2):223-228.
47. Patel H. Recent corticosteroid use and the risk of complicated varicella in otherwise immunocompetent children. Arch Pediatr Adolesc Med 1996, 150(4):409.