Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children14410.24287/1726-1708-2016-15-1-17-26ИММУНОЛОГИЯX-Linked lymphoproliferative syndrome types 1 and 2 (Review of literature and clinical case reports)Х-сцепленный лимфопролиферативный синдром 1-го и 2-го типов (обзор литературы и собственные клинические наблюдения)RoppeltAnna A.РоппельтАнна Артуровна
Russian Federation
roppelt_anna@mail.ruYukhachevaDarya V.ЮхачеваДарья Валерьевна
Russian Federation
yudashechka@mail.ruMyakovaNatalya V.МяковаНаталья Валерьевна
Russian Federation
nmiakova@mail.ruSmirnovaNadezhda V.СмирноваНадежда Владимировна
Russian Federation
nadin-dok@mail.ruSkvortsovaYuliya V.СкворцоваЮлия Валерьевна
Russian Federation
yuscvo@mail.ruVarlamovaTatyana V.ВарламоваТатьяна Владимировна
Russian Federation
varltatwell@mail.ruRaikinaElena V.РайкинаЕлена Владиславовна
Russian Federation
e_raikina@inbox.ruAbramovDmitry S.АбрамовДмитрий Сергеевич
Russian Federation
pathmorf@mail.ruUlanovaNatalya B.УлановаНаталья Борисовна
Russian Federation
natulan@inbox.ruGabrusskyaTatyana V.ГабрусскаяТатьяна Викторовна
Russian Federation
tatyanagabrusskaya@yandex.ruShcherbinaAnna Yu.ЩербинаАнна Юрьевна
Russian Federation
shcher26@hotmail.comFederal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry RogachevФедеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава РоссииSt. Petersburg State Pediatric Medical UniversityСанкт-Петербургский государственный педиатрический медицинский университет Минздрава России19032016151172619092018Copyright ©; 2016, «D. Rogachev NMRCPHOI»Copyright ©; 2016, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2016«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/144

X-Linked lymphoproliferative syndrome (XLP) is a primary immunodeficiency characterized by atypical reaction to Epstein-Barr virus (EBV), resulting in the development of hemophagocytosis, disgammaglobulinemia, and, depending on the syndrome type, malignant lymphoproliferation. Three types of XLP are known. XLP type 1 is a result of mutation in the SH2D1A gene encoding SAP adapter molecule. This XLP type is characterized by predisposition to EBV infection, hemophagocytic lymphohistiocytosis (HLH), disgammaglobulinemia, and malignant lymphoproliferation. XLP type 2 is similar to XLP type 1 by some clinical manifestations, such as predisposition to EBV infection and high risk of HLH, but differs from type 1 by the pathogenesis, development of hemorrhagic colitis, and absence of lymphomas. The clinical manifestations of XLP type 2 develop as a result of defects in XIAP gene, also known as BIRC4 gene, encoding an antiapoptotic protein. XLP type 3, caused by loss-of-function _ mutations in the gene encoding magnesium transporter 1 (MAGT1), has been recently discovered. In addition, several autosomal recessive syndromes with a similar XLP clinical manifestation - EBV-associated lymphoproliferation, with ITK, CD27, and CORO1A genes defects, are known. Clinical case reports of the most incident XLP types 1 and 2 are presented.

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