Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children108310.24287/j.1083LVURRYSCHOOL OF IMMUNOLOGY – EXPERT OPINIONШКОЛА ИММУНОЛОГА – МНЕНИЕ ЭКСПЕРТАResearch ArticleCombined immune deficiency caused by a hypomorphic IL2RG variant and disguised as Burkitt leukemia: a clinical caseКомбинированный иммунодефицит, вызванный гипоморфным вариантом IL2RG, под маской лейкоза Беркитта: клинический случайhttps://orcid.org/0000-0001-9517-5046MerkushovAlexey Yu.МеркушовАлексей Юрьевич
Russian Federation

an allergist-immunologist at Immunology Department

врач-аллерголог-иммунолог отделения иммунологии

sirarguson@gmail.comhttps://orcid.org/0000-0003-0581-9472MusaevaE. Ya.МусаеваЭ. Я.
Russian Federation
sirarguson@gmail.comhttps://orcid.org/0000-0002-6148-7209PershinD. Е.ПершинД. Е.
Russian Federation
sirarguson@gmail.comhttps://orcid.org/0000-0002-7634-2053RaykinaE. V.РайкинаЕ. В.
Russian Federation
sirarguson@gmail.comhttps://orcid.org/0000-0001-5201-6475AbugovaYu. G.АбуговаЮ. Г.
Russian Federation
sirarguson@gmail.comhttps://orcid.org/0000-0003-3664-2876AbramovD. S.АбрамовД. С.
Russian Federation
sirarguson@gmail.comhttps://orcid.org/0000-0002-4779-1896MyakovaN. V.МяковаН. В.
Russian Federation
sirarguson@gmail.comhttps://orcid.org/0000-0001-9857-4456RodinaYu. A.РодинаЮ. А.
Russian Federation
sirarguson@gmail.comThe 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 России300620262521741820302202606022026Copyright ©; 2026, «D. Rogachev NMRCPHOI»Copyright ©; 2026, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2026«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/1083

X-linked severe combined immunodeficiency (X-SCID) is an inborn error of immunity characterized by almost total absence of T and NK cells with normal counts of functionally impaired B cells (T–B+NK–) that is caused by pathogenic variants in the IL2RG gene resulting in early onset of life-threatening infections. Hypomorphic X-SCIDs present with variable clinical features and are characterized by later onset of infectious complications, a wide range of autoimmune manifestations, and increased risk of malignancies. In this article, we report a rare case of atypical X-SCID presenting with partial red cell aplasia and Burkitt leukemia as the first signs of immune dysregulation. Verification of the diagnosis of X-SCID leads to a different treatment approach, including the use of hematopoetic stem cell transplantation as a curative option. It highlights the importance of awareness of inborn errors of immunity among hematologists and oncologists.

Х-сцепленная тяжелая комбинированная иммунная недостаточность (Х-ТКИН) – врожденный дефект иммунитета, характеризующийся практически полным отсутствием Т-лимфоцитов и NK-клеток на фоне нормального количества функционально несостоятельных В-лимфоцитов (T–B+NK–), обусловленный патогенными вариантами в гене IL2RG и характеризующийся ранним дебютом жизнеугрожающих инфекций. Гипоморфные варианты данного заболевания характеризуются стертой клинической картиной с более поздним дебютом инфекционных осложнений, широким спектром аутоиммунных проявлений и риском развития опухолей. В статье представлен редкий клинический случай атипичной Х-ТКИН с развитием парциальной красноклеточной аплазии и лейкоза Беркитта как первых симптомов иммунной дизрегуляции. Верификация Х-ТКИН определяет другую тактику ведения пациента, включая проведение трансплантации гемопоэтических стволовых клеток как куративной опции лечения. Высокая настороженность в отношении врожденного дефекта иммунитета крайне актуальна среди гематологов и онкологов.

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