Russian Journal of AllergyRussian Journal of AllergyРоссийский Аллергологический Журнал1810-88302686-682XPublishing House ABV Press104910.36691/RJA1049ArticlesСтатьиHyper-IgE syndrome. The history of disease (from Job's syndrome to defect STAT3 gene)Гипер-IgE синдром. История болезни (от синдрома Иова до дефекта БТАТЗгена)YartsevMikhail NikolaevichЯрцевМихаил Николаевич

ФГБУ ГНЦ «Институт иммунологии ФМБА России»

m_yartsev@mail.ruPlakhtienkoM VПлахтиенкоМ В

ФГБУ ГНЦ «Институт иммунологии ФМБА России»

YartsevM NPlahtienkoM VФГБУ ГНЦ «Институт иммунологии ФМБА России»1508200964NO4 (2009)№4 (2009)465210032020Copyright ©; 2009, Pharmarus Print MediaCopyright ©; 2009, Фармарус Принт Медиа2009Pharmarus Print MediaФармарус Принт Медиаhttps://rusalljournal.ru/raj/article/view/1049

The lecture is devoted to hyper-IgE recurrent infections syndrome and is based both upon the literature survey and numerous personal observations for more than 25 years. Initial description of this disease by Davis et al (1966) under the name «Job's syndrome: recurrent «cold» staphylococcal abscesses» was followed by remarkable rinding of Buckley et al (1972) connecting this disease with extreme hyper-immunoglobulinemia E. Later on the two district forms of the disease were described: an autosomal dominant and autosomal recessive. Recently (2007) the nature of the most typical autosomal dominant form of the syndrome was discovered as mutations in STAT3. The discovery explains multiple disorders seen in this multisystem syndrome.

Обобщены материалы зарубежной литературы по истории описания, механизмам развития, особенностям клинической картины аутосомно-доминантного и аутосомно-рецессивного вариантов синдрома гипериммуноглобулинемии Е - повторных инфекций, эффективности проводимой терапии. Представлены обобщенные данные собственных наблюдений за 30-летний период. Отражены современные представления о генетической природе гипер-IgE синдрома, роли STAT3 гена в развитии заболевания.

STAT3hyper-IgE syndromeSTAT3primary immunodeficiencyгипер-IgE синдромпервичное иммунодефицитное состояниеDavis S.D., Schaller J., Wedgwood R.J. Job's syndrome: recurrent, «cold», staphylococcal abscesses. Lancet. 1966, v. 1, p. 1013-1015.Buckley R.H., Wray B.B., Belmaker E.Z. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972, v. 49, p. 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, v. 2, p. 617-619.Ярцев М.Н., Порховатый С.Я., Гомес Л.А. и cоавт. Клинико-иммунологический полиморфизм синдрома гипериммуноглобулинемии Е. Педиатрия. 1985, № 1, с. 15-18.Ярцев М.Н., Гомес Л.А., Самойленко Е.В., Чебышева Е.В. Гипер-IgE синдром. Критерии диагноза. Вопросы охраны материнства и детства. 1989, № 11, с. 26-30.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, v. 340, p. 692-702.Freeman A.F., Collura-Burke C.J., Patronas N.J. et al. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics. 2007, v. 119, p. 1121-1125.Renner E.D., Puck J.M., Holland S.M. et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J. Pediatr. 2004, v. 144, p. 93-99.Holland S.M., DeLeo F.R, Elloumi H.Z. et al. STAT3 mutations in the hyper-IgE syndrome. N. Engl. J. Med. 2007, v. 357, p. 1608-1619.Hokuto I., Ikegami M., Yoshida M. et al. Stat-3 is required for pulmonary homeostasis during hyperoxia. J. Clin. Invest. 2004, v. 113, p. 28-37.Welte T., Zhang S.S.M., Wang T. et al. STAT3 deletion during hematopoiesis causes Crohn's disease-like pathogenesis and lethality: a critical role of STAT3 in innate immunity. Proc .Natl. Acad. Sci. USA. 2003, v. 100, p. 1879-1884.Panopoulos A.D., Zhang L., Snow J.W et al. STAT3 governs distinct pathways in emergency granulopoiesis and mature neutrophils. Blood. 2006, v. 108, p. 3682-3690.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, v. 340, p. 692-702.Zhang Z., Welte T., Troiano N. et al. Osteoporosis with increased osteoclastogenesis in hematopoietic cell-specific STAT3-deficient mice. Biochem. Biophys. Res. Commun. 2005, v. 328, p. 800-807.Freeman A.F, Ling J., Collins M. et al. Minimal trauma fractures and reduced bone mineral density in hyper IgE syndrome. Presented at the Pediatric Academic Societies' Annual Meeting, Toronto, May 5-8, 2007.Wolk K., Sabat R. Interleukin-22: a novel T- and NK-cell derived cytokine that regulates the biology of tissue cells. Cytokine Growth Factor Rev. 2006, v. 17, p. 367-380.Wolk K., Kunz S., Wtte E. et al. IL-22 increases the innate immunity of tissues. Immunity. 2004, v. 21, p. 241-254.Jacoby J.J., Kalinowski A, Liu M.-G et al. Cardiomyocyte-restricted knockout of STAT3 results in higher sensitivity to inflammation, cardiac fibrosis, and heart failure with advanced age. Proc. Natl. Acad. Sci. USA. 2003, v. 100, p. 12929-12934.Ling J.C, Freeman A.F., Gharib AM. et al. Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. Clin. Immunol. 2007, v. 122, p. 255-258.Okada S., Nakamura M., Katoh H. et al. Conditional ablation of Stat3 or Socs3 discloses a dual role for reactive astrocytes after spinal cord injury. Nat. Med. 2006, v. 12, p. 829-834.Freeman A.F., Collura-Burke C.J., Patronas N.J. et al. Brain abnormalities in patients with hyperimmunoglobulin E syndrome. Pediatrics. 2007, v. 119, p. 1121-1125.Wooten D.K., Xie X., Bartos D. et al. Cytokine signaling through Stat3 activates integrins, promotes adhesion, and induces growth arrest in the myeloid cell line 32D. J. Biol. Chem. 2000, v. 275, p. 26566-26575.Panopoulos A.D., Bartos D., Zhang L., Watowich S.S. Control of myeloid-specific integrin alphaMbeta2 (CD11b/CD18) expression by cytokines is regulated by Stat3-dependent activation of PU.1. J. Biol. Chem. 2002, v. 277, p. 19001-19007.Wang L., Arcasoy M.O., Watowich S.S., Forget B.G Cytokine signals through STAT3 promote expression of granulocyte secondary granule proteins in 32D cells. Exp. Hematol. 2005, v. 33, p. 308-317.Yang X.O., Panopoulos A.D., Nurieva R. et al. STAT3 regulates cytokine-mediated generation of inflammatory helper T cells. J. Biol. Chem. 2007, v. 282, p. 9358-9363.Murray P.J. The JAK-STAT signaling pathway: input and output integration. J. Immunol. 2007, v. 178, p. 2623-2629.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, v. 340, p. 692-702.Ozaki K., Spolski R., Feng C.G. et al. A critical role for IL-21 in regulating immunoglobulin production. Science. 2002, v. 298, p. 1630-1634.