Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children21710.24287/1726-1708-2018-17-4-75-81ШКОЛА ИММУНОЛОГАTreatment approaches to hyper-IgE syndrome: a clinical case reportПодходы к лечению аутосомно-доминантного гипер-IgE-синдрома: клинический случайhttps://orcid.org/0000-0001-5962-1264KantulaevaA. K.КантулаеваА. К.
Russian Federation
https://orcid.org/0000-0002-1669-8621KuzmenkoN. B.КузьменкоН. Б.
Russian Federation

 MD, Chief of the Department of Epidemiology and PIDS monitoring.

 117997, Moscow, Samory Mashela st., 1. 

 канд. мед. наук, заведующая отделом эпидемиологии и мониторинга иммунодефицитов.

117997, Москва, ГСП-7, ул. Саморы Машела, 1 

plunge@list.ruhttps://orcid.org/0000-0002-9083-4783DeripapaE. V.ДерипапаЕ. В.
Russian Federation
https://orcid.org/0000-0001-9078-8206YukhachevaD. V.ЮхачеваД. В.
Russian Federation
https://orcid.org/0000-0002-2427-1417VictorovaE. A.ВиктороваЕ. А.
Russian Federation
https://orcid.org/0000-0003-1267-9957BurlakovV. I.БурлаковВ. И.
Russian Federation
https://orcid.org/0000-0002-3113-4939ShcherbinaA. Y.ЩербинаА. Ю.
Russian Federation
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России.1301201917475811201201912012019Copyright ©; 2019, «D. Rogachev NMRCPHOI»Copyright ©; 2019, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2019«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/217

The hyper-IgE syndrome with dominant-negative mutations in signal transducer and activator of transcription 3 (STAT3) gene is a combined primary immunodeficiency characterized by severe bacterial infections (skin and lungs with bullae formation), characteristic phenotype, serum IgE elevation, eosinophilia, as well as connective tissue, and bone anomalies. Patients also have  high risk of cancer. STAT3 is a transcription factor important for the JAK/STAT signaling pathway, which plays the key role in the synthesis of cytokines, hormones, and bioactive agents. Hyper-IgE syndrome therapy includes antimicrobial prophylaxis, immunoglobulin replacement, and use of bisphosphonates. Hematopoietic stem cell transplantation is an alternative way for the disease treatment. Here we describe a patient with severe autosomal dominant hyper-IgE-syndrome with thte loss-of-function mutation in the STAT3 gene. Patient's parents agreed to use personal dats and photos in research and publications.

Гипер-IgE-синдром с аутосомно-доминантным дефектом в гене STAT3 – это комбинированный первичный иммунодефицит, характеризующийся тяжелыми бактериальными инфекциями (кожи, подкожной клетчатки, легких с формированием пневматоцеле), специфическим фенотипом, а также увеличением сывороточного IgE, эозинофилией, аномалиями костей и соединительной ткани. Кроме того, у пациентов имеется повышенный риск онкологических заболеваний. STAT3 – активатор транскрипции, играющий важную роль в сигнальном пути JAK/STAT – ключевом пути синтеза цитокинов, гормонов, биологически активных веществ. Лечение данного синдрома включает профилатическую противомикробную терапию, заместительную терапию иммуноглобулином, использование бисфосфонатов. К альтернативным методам терапии относится трансплантация гемопоэтических стволовых клеток. В статье представлен клинический случай тяжелого течения аутосомно-доминантного гипер-IgE-синдрома с мутацией в гене STAT3. Родители пациента дали согласие на использование информации о нем, в том числе фотографий, в научных исследованиях и публикациях.

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