Open AccessRare CVID-like phenotype of autoimmune lymphoproliferative syndrome
Author(s) -
О. А. Швец,
Ekaterina Deordieva,
М. А. Курникова,
Dmitriy Pershin,
А. М. Киева,
А. В. Пшонкин,
Н. С. Сметанина,
Anna Shcherbina
Publication year - 2021
Publication title -
voprosy gematologii/onkologii i immunopatologii v pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.108
H-Index - 3
eISSN - 2414-9314
pISSN - 1726-1708
DOI - 10.24287/1726-1708-2021-20-1-170-179
Subject(s) - autoimmune lymphoproliferative syndrome , hypergammaglobulinemia , lymphoproliferative disorders , common variable immunodeficiency , medicine , immunology , phenotype , immunodeficiency , immune system , antibody , apoptosis , biology , genetics , fas receptor , lymphoma , gene , programmed cell death
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.