RARE PRIMARY IMMUNODEFICIENCY – HYPER-IgE-SYNDROME: CASE REPORT AND LITERATURE REVIEW
https://doi.org/10.15690/pf.v10i1.589
Abstract
The article is dedicated to one of the rare primary immunodeficiency pathologies – hyper-IgE-syndrome. The authors present a clinical case from their own practice and a literature review on this disease. Inheritance, pathogenesis, clinical manifestations and hyper-IgE-syndrome diagnostics issues are also examined in the article. The article shows differences of disease course at different inheritance types – autosomal-dominant and autosomal-recessive.
About the Authors
Nikolai Vasil'evich Sobotyuk
Omsk State Medical Academy, Russian Federation
PhD, professor of the pediatrics department at OmSMA
PhD, professor of the pediatrics department at OmSMA
E. A. Potrokhova
Omsk State Medical Academy, Russian Federation
S. A. Golochalova
Omsk State Medical Academy, Russian Federation
S. V. Bochantsev
Omsk State Medical Academy, Russian Federation
T. N. Kharlamova
Omsk State Medical Academy, Russian Federation
Y. A. Stroylova
Omsk State Medical Academy, Russian Federation
References
1. Steihm E. R., Chin T. W., Haas A., Peerles A. G. Infectious compli cations of the primary immunodeficiencies. Clin Immunol Immunopathol. 1986; 40: 69–86.
2. Ohman S., Johansson S. G. Allergenspecific IgE in atopic dermatitis. Acta Derm. Venereol. 1974; 54: 283–290.
3. Schimke L. F., Sawalle-Belohradsky J., Roesler J. Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J. of Allergy Clin. Immunol. 2010; 126 (3): 611–617.
4. Grimbacher В., Belohradsky B. H., Holland S. M. Immunoglobulin E in primary immunodeficiency diseases. Allergy. 2002; 57: 995–1007.
5. Davis S. D., Schaller J., Wedgwood R. J. Job’s Syndrome. Recurrent, «cold» staphylococcal abscesses. Lancet. 1966; 1: 1013–1015.
6. Buckley R. H., Wray B. B., Belmaker E. Z. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972; 49: 59–70.
7. Hill H. R., Ochs H. D., Quie P. G. et al. Defect in neutrophil granulocyte chemotaxis in Job's syndrome of recurrent «cold» staphylococcal abscesses. Lancet. 1974; 2: 617–619.
8. Buckley R. H., Becker W. G. Abnormalities in the regulation of human IgE synthesis. Immunol. Rev. 1978; 41: 288–314.
9. Hill H. R., Quie P. G. Raised serum IgE levels and defective neutrophil chemotaxis in three children with eczema and recurrent bacterial infections. Lancet. 1974; 1: 183–197.
10. Shirafuji Y., Matsuura H., Sato A. Hyperimmunoglobulin E syndrome: a sign of TH1/TH2 imbalance? Eur. J. Dermatol. 1999; 9: 129–131.
11. Grimbacher B., Holland S. M., Gallin J. I. et al. Hyper IgE syndrome with recurrent infections: an autosomal dominant multisystem disorder. Am. J. Hum. Genet. 1999; 65: 735–744.
12. Renner E. D., Puck J. M., Holland S. M. et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J. Pediatr. 2004; 144: 93–99.
13. Grimbacher B., Holland S. M., Puck J. M. Hyper-IgE syndromes. Immunol. Rev. 2005; 203: 244–250.
14. Brugnoni D., Franceschini F., Airo P., Cattaneo R. Discordance for systemic lupus erythematosus and hyper IgE syndrome in a pair of monozygotic twins. Br. J. Rheumatol. 1998; 37: 807–808.
15. Min J. K., Cho M. L., Kim S. C. et al. Hyperimmunoglobulin E-recurrent infection syndrome in a patient with juvenile dermatomyositis. Korean J. Intern. Med. 1999; 14: 95–98.
16. Chang S. E., Huh J., Choi J. H. et al. A case of hyper-IgE syndrome complicated by cutaneous, nodal, and liver peripheral T cell lymphomas. J. Dermatol. 2002; 29: 320–322.
17. Onal I. K., Kurt M., Altundag K. et al. Peripheral T-cell lymphoma and Job's syndrome: a rare association. Med. Oncol. 2006; 23: 141–144.
18. Yavuz H., Chee R. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clin. Exp. Immunol. 2010; 159: 238–244.
19. Renner E. D., Rylaarsdam S., Anover-Sombke S. et al. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T (H) 17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J. Allergy Clin. Immunol. 2008; 122 (1): 181–187.
20. Helen Н. C. DOCK8 (Dedicator of cytokinesis 8) deficiency. Curr. Opin. Allergy Clin. Immunol. 2010; 10 (6): 515–520.
21. Freeman A. F., Holland S. M. Clinical manifestations, etiology and pathogenesis of the hyper-IgE syndromes. Pediatr. Res. 2009; 65: 32–37.
22. Buckley R. H., Schiff S., Sampson H. Reduced frequency of CD45RO+ T lymphocytes in blood of hyper IgE-syndrome patients. J. Allergy Clin. Immunol. 1991; 87: 313.
23. Dreskin S. C., Goldsmith P. K., StroberW. et al. Metabolism of immunoglobulin E in patients with markedly elevated serum immunoglobulin E levels. J. Clin. Invest. 1987; 79: 1764–1772.
24. Buckley R. H. The hyper-IgE syndrome. Clin. Rev. Allergy Immunol. 2001, 20: 139–154.
25. Van Scoy R. E., Hill H. R., Ritts R. E., Quie P. G. Familial neutrophil chemotaxisdefect, recurrent bacterial infections, mucocutaneous candidiasis, and hyperimmunoglobulinemia E. Ann. Intern. Med. 1975; 82: 766–771.
26. Vercelli D., Jabara H., Cunningham-Rundles C. et al. Regulation of immunoglobulin (Ig) E synthesis in the hyper-IgE syndrome. J. Clin. Invest. 1990; 85: 1666–1671.
27. Paganelli R., Scala E. Capobianchi M. R. et al. Selective deficiency of interferon-gamma production in the hyper-IgE syndrome. Relationship to in vitro IgE synthesis. Clin. Exp. Immunol. 1991; 84: 28–33.
28. Freeman A. F., Holland S. M. Clinical manifestations of hyper IgE syndromes. Dis Markers. 2010; 29 (3–4): 123–30.
29. Minegishi Y., Saito M., Tsuchiya S. et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007; 448: 1058–1062.
30. Holland S. M., DeLeo F. R., Elloumi H. Z. et al. STAT3 mutations in the hyper-IgE syndrome. N. Engl. J. Med. 2007; 357: 1608–1619.
31. Renner E. D., Torgerson T. R., Rylaarsdam S. et al. STAT3 mutation in the original patient with Job's syndrome. N. Engl. J. Med. 2007; 357: 1667–1668.
32. Levy D. E., Lee CK. What does Stat3 do? J. Clin. Invest. 2002; 109: 1143–1148.
33. Dong C. TH17 cells in development: an updated view of their molecular identity and genetic programming. Nat. Rev. Immunol. 2008; 5: 337–348.
34. Kolls J. K., Linden A. Interleukin-17 family members and inflammation. Immunity. 2004; 21: 467–476.
35. Kolls J. K., McCray P. B. Jr., Chan Y. R. Cytokine-mediated regulation of antimicrobial proteins. Nat. Rev. Immunol. 2008; 8: 829–835.
36. Minegishi Y., Karasuyama H. Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency. Curr. Opin. Allergy Clin. Immunol. 2005; 7: 506–509.
37. Minegishi Y., Karasuyama H. Genetic origins of hyper-IgE syndrome. Curr. Allergy Asthma Rep. 2008; 8: 386–391.
38. Minegishi Y., Karasuyama H. Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency. Int Immunol. 2009; 21: 105–112. Exp. Med. 2009 June 8; 206 (6): 1291–1301.
39. Minegishi Y., Saito M., Nagasawa M. Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J. Exp. Med. 2009; 206 (6): 1291–1301.
40. Milner J. D., Brenchley J. M., Laurence A., Freeman A. F. et al. Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature. 2008; 452: 773–776.
41. Hawn T. R., Ozinsky A., Williams L. M. et al. Hyper-IgE syndrome is not associated with defects in several candidate toll-like receptor pathway genes. Hum. Immunol. 2005; 66: 842–847.
42. Renner E. D., Pawlita I., Hoffmann F. et al. No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome. J. Clin. Immunol. 2005. Р. 321–328.
43. Engelhardt K. R., 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.
44. Renner E. D., Rylaarsdam S., Anover-Sombke S. et al. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T (H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J. Allergy Clin. Immunol. 2008; 122 (1): 181–7.
45. Lei J. Y., Wang Y., Jaffe E. S. et al. Microcystic adnexal carcinoma associated with primary immunodeficiency, recurrent diffuse herpes simplex virus infection, and cutaneous T-cell lymphoma. Am. J. Dermatopathol. 2000; 22 (6): 524–9.
46. Minegishi Y., Saito M., Morio T. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006; 25: 745–755.
47. Minegishi Y. Hyper-IgE syndrome. Curr. Opin. Immunol. 2009; 21 (5): 487–92.
48. Woellner C., Gertz E. M., Schaeffer A. A. et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J. Allergy Clin. Immunol. 2010; 125: 424–432.
49. Hochreutener H., Wuthrich B., Huwyler T. et al. Variant of hyper- IgE syndrome: the differentiation from atopic dermatitis is important because of treatment and prognosis. Dermatologica. 1991; 182: 7–11.
50. Kimata H. High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome. J. Allergy Clin. Immunol. 1995; 95: 771–774.
51. Wakim M., Alazard M., Yajima A. et al. High-dose intravenous immunoglobulin in atopic dermatitis and hyper-IgE syndrome. Ann. Allergy Asthma Immunol. 1998; 81: 153–158.
52. Baranov A.A., Tatochenko V.K., Bakradze M.D. Likhoradochnye sindromy u detei: rekomendatsii po diagnostike i lecheniyu. Pod obshch. red. A.A. Baranova, V.K. Tatochenko, M.D. Bakradze [Febrile Syndromes in Children: Recommendations for Diagnosis and Treatment. Edited by A.A. Baranov, V.K. Tatochenko, M.D. Bakradze]. Moscow, Soyuz pediatrov Rossii, 2011. 228 p.
53. Goussetis E., Peristeri I., Kitra V. et al. Successful longterm immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. J. Allergy Clin. Immunol. 2010; 126: 392–394.
54. Gatz S. A., Benninghoff U., Schutz C. et al. Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplant. 2011; 46: 552–556.
Review
For citations:
Sobotyuk N.V., Potrokhova E.A., Golochalova S.A., Bochantsev S.V., Kharlamova T.N., Stroylova Y.A. RARE PRIMARY IMMUNODEFICIENCY – HYPER-IgE-SYNDROME: CASE REPORT AND LITERATURE REVIEW. Pediatric pharmacology. 2013;10(1):54-61. https://doi.org/10.15690/pf.v10i1.589
Views:
2630
Email this article 