Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children49510.24287/1726-1708-2021-20-1-170-179ШКОЛА ИММУНОЛОГАRare CVID-like phenotype of autoimmune lymphoproliferative syndromeРедкий ОВИН-подобный фенотип при аутоиммунном лимфопролиферативном синдромеhttps://orcid.org/0000-0001-5347-7150ShvetsO. A.ШвецО. А.
Russian Federation

Cand. Med. Sci., an allergist-immunologist at the Department of Immunology,

1 Samory Mashela St., Moscow 117997

канд. мед. наук, врач-аллергологиммунолог отделения иммунологии,

117997, Москва, ул. Саморы Машела, 1

shv1808@rambler.ruhttps://orcid.org/0000-0002-8208-2075DeordievaE. A.ДеордиеваЕ. А.
Russian Federation

Moscow 

Москва

https://orcid.org/0000-0003-0900-6874KurnikovaM. A.КурниковаМ. А.
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. M.КиеваА. М.
Russian Federation

Moscow 

Москва

https://orcid.org/0000-0002-2057-2036PshonkinA. V.ПшонкинА. В.
Russian Federation

Moscow 

Москва

https://orcid.org/0000-0002-8805-1499SmetaninaN. S.СметанинаН. С.
Russian Federation

Moscow 

Москва

ShcherbinaA. Yu.ЩербинаА. Ю
Russian Federation

Moscow 

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России210420212011701792004202120042021Copyright ©; 2021, «D. Rogachev NMRCPHOI»Copyright ©; 2021, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2021«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/495

Autoimmune lymphoproliferative syndrome is a primary immunodeficiency caused by defective FAS-mediated apoptosis and usually accompanied by hypergammaglobulinemia. Yet some exceptions take place in the cohort of patients that complicated timely diagnosis, in particular, some symptoms may resemble common variable immune deficiency. In this article, we describe the patient with rare case of agammaglobulinemia and genetically confirmed autoimmune lymphoproliferative syndrome. The patient's parents agreed to use the information, including the child's photo, in scientific research and publications. 

Аутоиммунный лимфопролиферативный синдром – первичный иммунодефицит, вызванный нарушением FAS-опосредованного апоптоза, обычно сопровождающийся гипергаммаглобулинемией. Тем не менее в данной когорте пациентов случаются исключения, затрудняющие своевременную диагностику, в частности, может наблюдаться симптоматика, напоминающая общую вариабельную иммунную недостаточность. В данной статье мы описываем редкий случай агаммаглобулинемии у пациентки с генетически подтвержденным аутоиммунным лимфопролиферативным синдромом. Родители пациентки дали согласие на использование информации, в том числе фото ребенка, в научных исследованиях и публикациях. 

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