Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children29110.24287/1726-1708-2019-18-4-99-104SCHOOL OF IMMUNOLOGY – EXPERT OPINIONШКОЛА ИММУНОЛОГА – МНЕНИЕ ЭКСПЕРТАGranulomatous inflammation in the manifestation of chronic granulomatous disease: a clinical case reportГранулематозное воспаление в манифестации хронической гранулематозной болезни: клинический случайhttps://orcid.org/0000-0001-9078-8206YukhachevaD. V.ЮхачеваД. В.
Russian Federation

Correspondence: Daria V. Yukhacheva, MD, Department of Clinical Immunology of Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.

Address: Russia 117997, Moscow, Samory Mashela st., 1

Контактная информация: Юхачева Дарья Валерьевна, врач – аллерголог-иммунолог отделения иммунологии НМИЦ детской гема- тологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава России.

Адрес: 117997, Москва, ГСП-7, ул. Саморы Машела, 1yukhachevadv@gmail.comhttps://orcid.org/0000-0002-6148-7209PershinD. E.ПершинД. Е.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-9424-1646UskovaN. G.УсковаН. Г.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-7317-7104TereshchenkoG. V.ТерещенкоГ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-1669-8621KuzmenkoN. B.КузьменкоН. Б.
Russian Federation

Moscow

Москва

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России31122019184991043112201931122019Copyright ©; 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/291

Chronic granulomatous disease is a primary immunodeficiency, characterized by a violation of the oxygen-dependent mechanisms of phagocytosis. Mutations in the genes encoding proteins of the NADPH-oxidase complex lead to a violation of the respiratory burst. Clinical manifestations are recurrent bacterial and fungal infections, and the development of granulomatous complications due to a defect in autophagy, accompanied by an increase in the level of interleukin-1 inthe blood. The treatment of this disease is continuous preventive antimicrobial therapy, and specific therapy for the treatment of granulomatous complications. Hematopoietic stem cell transplantation from an allogeneic or unrelated donor is currently considered to be only radical treatment for CGD. This article presents a clinical case of the manifestation of an X-linked form of chronic granulomatous disease with granulomatous manifestations in the absence of an infectious history. Parents patient agreed to use personal data in research and publications.

Хроническая гранулематозная болезнь – первичный иммунодефицит, характеризующийся нарушением кислородозависимых механизмов фагоцитоза, так как при мутациях в генах, кодирующих белки НАДФН-оксидазного комплекса, происходит нарушение респираторного взрыва. Клинические проявления этой болезни – рецидивирующие бактериальные и грибковые инфекции, а также развитие гранулематозных осложнений вследствие дефекта аутофагии, сопровождающееся повышением уровня интерлейкина-1 в крови. Лечение данного заболевания заключается в постоянной профилактической противомикробной терапии, а также специфической терапии для лечения гранулематозных осложнений. При этом единственным радикальным методом лечения этого заболевания считается трансплантация гемопоэтических стволовых клеток от аллогенного родственного или неродственного донора. В статье представлен клинический случай манифестации Х-сцепленной формы хронической гранулематозной болезни с гранулематозных проявлений при отсутствии инфекционного анамнеза. Родители дали согласие на использование информациио ребенке в научных исследованиях и публикациях.

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