Rare CVID-like phenotype of autoimmune lymphoproliferative syndrome-Reference-Cited by-同舟云学术

Rare CVID-like phenotype of autoimmune lymphoproliferative syndrome

Published:2021-04-21 Issue:1 Volume:20 Page:170-179
ISSN:2414-9314
Container-title:Pediatric Hematology/Oncology and Immunopathology
language:
Short-container-title:Voprosy gematologii/onkologii i immunopatologii v pediatrii

Author:

Shvets O. A.¹^ORCID,Deordieva E. A.¹^ORCID,Kurnikova M. A.¹^ORCID,Pershin D. E.¹^ORCID,Kieva A. M.¹^ORCID,Pshonkin A. V.¹^ORCID,Smetanina N. S.¹^ORCID,Shcherbina A. Yu.¹

Affiliation:

1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

Abstract

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.

Publisher

Fund Doctors, Innovations, Science for Children

Subject

Oncology,Hematology,Immunology,Immunology and Allergy,Pediatrics, Perinatology and Child Health

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