Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children43410.24287/1726-1708-2020-19-4-178-184SCHOOL OF IMMUNOLOGY – EXPERT OPINIONШКОЛА ИММУНОЛОГА – МНЕНИЕ ЭКСПЕРТАImmune dysregulation symptoms as a rare manifestation of X-linked lymphoproliferative syndrome type 1Симптомы иммунной дисрегуляции как редкие проявления Х-сцепленного лимфопролиферативного синдрома 1-го типаhttps://orcid.org/0000-0001-5132-1267RoppeltA. А.РоппельтA. A.
Russian Federation

Anna A. Roppelt, doctor in the Department of Immunology

1 Samory Mashela St., Moscow 117997

Роппельт Анна Артуровна, врач отделения иммунологии 

117997, Москва, ул. Саморы Машела, 1

roppelt_anna@mail.ruhttps://orcid.org/0000-0002-6553-2505FadeevaM. S.ФадееваM. C.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-6148-7209PershinD. E.ПершинД. Е.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-2467-2840KievaA. М.КиеваА. М.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-7634-2053RaykinaE. M.РайкинаЕ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-3800-8927GutovskayaE. I.ГутовскаяЕ. И.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-7696-1153RadyginaS. A.РадыгинаС. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-3664-2876AbramovD. S.АбрамовД. С.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-3113-4939ShcherbinaA. Yu.ЩербинаА. Ю.
Russian Federation

Moscow

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России081220201941781842112202021122020Copyright ©; 2025, «D. Rogachev NMRCPHOI»Copyright ©; 2025, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2025«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/434

X-linked lymphoproliferative syndrome type 1 (XLP1) is a primary immunodeficiency, the most dramatic manifestations of which are hemophagocytic lymphohistiocytosis (usually associated with Epstein-Barr virus), lymphoma and dysgammaglobulinemia. Immune symptoms like vasculitis, aplastic anemia and others are extremely rare. Specialists awareness and suspicion regarding such complications of XLP1 facilitate correct diagnosis and early curative treatment - hematopoietic stem cell transplantation (HSCT). Here we present two clinical cases of XLP1 with immune dysregulation symptoms where one patient underwent successful HSCT. In each case, the parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.

Х-сцепленный лимфопролиферативный синдром 1-го типа (ХЛП1) – это первичный иммунодефицит, наиболее яркими проявлениями которого являются гемофагоцитарный лимфогистиоцитоз, как правило, ассоциированный с вирусом Эпштейна–Барр, лимфома и дисгаммаглобулинемия. Иммунные проявления, такие как васкулит, угнетение гемопоэза и др., встречаются крайне редко. Осведомленность и настороженность специалистов в отношении редких осложнений ХЛП1 способствуют правильной диагностике и своевременному проведению куративной терапии – трансплантации гемопоэтических стволовых клеток (ТГСК). Мы приводим два клинических случая ХЛП1 с проявлениями иммунной дисрегуляции, в одном из которых пациенту была проведена успешная ТГСК. Родители дали согласие на использование информации, в том числе фотографий детей, в научных исследованиях и публикациях.

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