References

ppharm

Педиатрическая фармакология

Pediatric pharmacology

1727-57762500-3089

Издательство «ПедиатрЪ»

10.15690/pf.v10i1.589

ppharm-253

Research Article

РЕДКИЕ БОЛЕЗНИ

RARE DISEASES

РЕДКИЙ ПЕРВИЧНЫЙ ИММУНОДЕФИЦИТ — ГИПЕР-IGE-СИНДРОМ: ПРЕЗЕНТАЦИЯ СЛУЧАЯ И ОБЗОР ЛИТЕРАТУРЫ

RARE PRIMARY IMMUNODEFICIENCY – HYPER-IgE-SYNDROME: CASE REPORT AND LITERATURE REVIEW

Соботюк

Н. В.

Sobotyuk

Nikolai Vasil'evich

доктор медицинских наук, профессор кафедры педиатрии ОмГМА

PhD, professor of the pediatrics department at OmSMA

Sobotyuk@mail.ru

Потрохова

Е. А.

Potrokhova

E. A.

Голочалова

С. А.

Golochalova

S. A.

Бочанцев

С. В.

Bochantsev

S. V.

Харламова

Т. Н.

Kharlamova

T. N.

Стройлова

Ю. А.

Stroylova

Y. A.

Омская государственная медицинская академия, Российская ФедерацияOmsk State Medical Academy, Russian Federation

2013

13022013

101

Педиатрическая фармакология

5461

2013

Соботюк Н.В., Потрохова Е.А., Голочалова С.А., Бочанцев С.В., Харламова Т.Н., Стройлова Ю.А.

Sobotyuk N.V., Potrokhova E.A., Golochalova S.A., Bochantsev S.V., Kharlamova T.N., Stroylova Y.A.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.pedpharma.ru/jour/article/view/253

Статья посвящена одной из редких патологий из группы первичных иммунодефицитов — гипер-IgE-синдрому. Авторы представляют клинический случай из собственной практики, а также обзор современных литературных данных по данной болезни. Рассмотрены вопросы наследования, патогенеза, клинических проявлений, а также диагностики гипер-IgE-синдрома. Показаны различия в течении болезни при разных типах наследования — аутосомнодоминантном, аутосомно-рецессивном.

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.

первичный иммунодефицитгипер-IgE-синдромнаследованиеэтиологияпатогенезклиническое течениедиагностикалечениедети

primary immunodeficiencyyper-IgE-syndromeinheritanceetiologypathogenesisclinical coursediagnosticstreatmentchildren

References1

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.

Ohman S., Johansson S. G. Allergenspecific IgE in atopic dermatitis. Acta Derm Venereol. 1974; 54: 283–290.

Ohman S., Johansson S. G. Allergenspecific IgE in atopic dermatitis. Acta Derm. Venereol. 1974; 54: 283–290.

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.

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.

Grimbacher В., Belohradsky B. H., Holland S. M. Immunoglobulin E in primary immunodeficiency diseases. Allergy. 2002; 57: 995–1007.

Davis S. D., Schaller J., Wedgwood R. J. Job’s Syndrome. Recurrent, ≪cold≫ staphylococcal abscesses. Lancet. 1966; 1: 1013–1015. 60

Davis S. D., Schaller J., Wedgwood R. J. Job’s Syndrome. Recurrent, «cold» staphylococcal abscesses. Lancet. 1966; 1: 1013–1015.

Buckley R. H., Wray B. B., Belmaker E. Z. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972; 49: 59–70.

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.

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.

Buckley R. H., Becker W. G. Abnormalities in the regulation of human IgE synthesis. Immunol Rev. 1978; 41: 288–314.

Buckley R. H., Becker W. G. Abnormalities in the regulation of human IgE synthesis. Immunol. Rev. 1978; 41: 288–314.

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.

Shirafuji Y., Matsuura H., Sato A. Hyperimmunoglobulin E syndrome: a sign of TH1/TH2 imbalance? Eur J Dermatol. 1999; 9: 129–131.

Shirafuji Y., Matsuura H., Sato A. Hyperimmunoglobulin E syndrome: a sign of TH1/TH2 imbalance? Eur. J. Dermatol. 1999; 9: 129–131.

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.

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.

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.

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.

Grimbacher B., Holland S. M., Puck J. M. Hyper-IgE syndromes. Immunol Rev. 2005; 203: 244–250.

Grimbacher B., Holland S. M., Puck J. M. Hyper-IgE syndromes. Immunol. Rev. 2005; 203: 244–250.

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.

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.

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.

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.

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.

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.

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.

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.

Yavuz H., Chee R. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clin Exp Immunol. 2010; 159: 238–244.

Yavuz H., Chee R. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clin. Exp. Immunol. 2010; 159: 238–244.

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

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.

STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol. 2008; 122 (1): 181–187.

Helen Н. C. DOCK8 (Dedicator of cytokinesis 8) deficiency. Curr. Opin. Allergy Clin. Immunol. 2010; 10 (6): 515–520.

Helen Н. C. DOCK8 (Dedicator of cytokinesis 8) deficiency. Curr Opin Allergy Clin Immunol. 2010; 10 (6): 515–520.

Freeman A. F., Holland S. M. Clinical manifestations, etiology and pathogenesis of the hyper-IgE syndromes. Pediatr. Res. 2009; 65: 32–37.

Freeman A. F., Holland S. M. Clinical manifestations, etiology and pathogenesis of the hyper-IgE syndromes. Pediatr Res.2009; 65: 32–37.

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.

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.

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.

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.

Buckley R. H. The hyper-IgE syndrome. Clin. Rev. Allergy Immunol. 2001, 20: 139–154.

Buckley R. H. The hyper-IgE syndrome. Clin Rev Allergy Immunol. 2001, 20: 139–154.

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.

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.

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.

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.

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.

Freeman A. F., Holland S. M. Clinical manifestations of hyper IgE syndromes. Dis Markers. 2010; 29 (3–4): 123–30.

; 84: 28–33.

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.

Freeman A. F., Holland S. M. Clinical manifestations of hyper IgE syndromes. Dis Markers. 2010; 29 (3–4): 123–30.

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.

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.

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.

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.

Levy D. E., Lee CK. What does Stat3 do? J. Clin. Invest. 2002; 109: 1143–1148.

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.

Dong C. TH17 cells in development: an updated view of their molecular identity and genetic programming. Nat. Rev. Immunol. 2008; 5: 337–348.

Levy D. E., Lee CK. What does Stat3 do? J Clin Invest. 2002; 109: 1143–1148.

Kolls J. K., Linden A. Interleukin-17 family members and inflammation. Immunity. 2004; 21: 467–476.

Dong C. TH17 cells in development: an updated view of their molecular identity and genetic programming. Nat Rev Immunol. 2008; 5: 337–348.

Kolls J. K., McCray P. B. Jr., Chan Y. R. Cytokine-mediated regulation of antimicrobial proteins. Nat. Rev. Immunol. 2008; 8: 829–835.

Kolls J. K., Linden A. Interleukin-17 family members and inflammation. Immunity. 2004; 21: 467–476.

Minegishi Y., Karasuyama H. Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency. Curr. Opin. Allergy Clin. Immunol. 2005; 7: 506–509.

Kolls J. K., McCray P. B. Jr., Chan Y. R. Cytokine-mediated regulation of antimicrobial proteins. Nat Rev Immunol. 2008; 8: 829–835.

Minegishi Y., Karasuyama H. Genetic origins of hyper-IgE syndrome. Curr. Allergy Asthma Rep. 2008; 8: 386–391.

Minegishi Y., Karasuyama H. Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency. Curr Opin Allergy Clin Immunol. 2005; 7: 506–509.

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.

Minegishi Y., Karasuyama H. Genetic origins of hyper-IgE syndrome. Curr Allergy Asthma Rep. 2008; 8: 386–391.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Minegishi Y. Hyper-IgE syndrome. Curr. Opin. Immunol. 2009; 21 (5): 487–92.

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.

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.

Minegishi Y. Hyper-IgE syndrome. Curr Opin Immunol. 2009; 21 (5): 487–92.

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.

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.

Kimata H. High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome. J. Allergy Clin. Immunol. 1995; 95: 771–774.

Hochreutener H., Wuthrich B., Huwyler T. et al. Variant of hyperIgE syndrome: the differentiation from atopic dermatitis is important because of treatment and prognosis. Dermatologica. 1991; 182: 7–11.

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.

Kimata H. High-dose intravenous gamma-globulin treatment for hyperimmunoglobulinemia E syndrome. J Allergy Clin Immunol. 1995; 95: 771–774.

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.

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.

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.

Баранов А.А., Таточенко В.К., Бакрадзе М.Д. Лихорадочные синдромы у детей: рекомендации по диагностике и лечению / под общ. ред. А.А. Баранова, В.К. Таточенко, М.Д. Бакрадзе. — М.: Союз педиатров России, 2011. — 228 с.

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.

The authors declare that there are no conflicts of interest present.