Rare CVID-like phenotype of autoimmune lymphoproliferative syndrome

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Authors: Shvets O.A.¹, Deordieva E.A.¹, Kurnikova M.A.¹, Pershin D.E.¹, Kieva A.M.¹, Pshonkin A.V.¹, Smetanina N.S.¹, Shcherbina A.Y.¹
Affiliations:
1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
Issue: Vol 20, No 1 (2021)
Pages: 170-179
Section: ШКОЛА ИММУНОЛОГА
Submitted: 20.04.2021
Accepted: 20.04.2021
Published: 20.04.2021
URL: https://hemoncim.com/jour/article/view/495
DOI: https://doi.org/10.24287/1726-1708-2021-20-1-170-179
ID: 495

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Abstract
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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.

Keywords

autoimmune lymphoproliferative syndrome, lymphoproliferation, agammaglobulinemia, autoimmunity, cytopenia, common variable immune deficiency, FAS, double-negative T-lymphocytes, cyanocobalamin (vitamin B12)

About the authors

O. A. Shvets

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

Author for correspondence.
Email: shv1808@rambler.ru
ORCID iD: 0000-0001-5347-7150

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

1 Samory Mashela St., Moscow 117997

Russian Federation

E. A. Deordieva

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

ORCID iD: 0000-0002-8208-2075

Moscow

Russian Federation

M. A. Kurnikova

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

ORCID iD: 0000-0003-0900-6874

Moscow

Russian Federation

D. E. Pershin

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

ORCID iD: 0000-0002-6148-7209

Moscow

Russian Federation

A. M. Kieva

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

ORCID iD: 0000-0003-2467-2840

Moscow

Russian Federation

A. V. Pshonkin

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

ORCID iD: 0000-0002-2057-2036

Moscow

Russian Federation

N. S. Smetanina

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

ORCID iD: 0000-0002-8805-1499

Moscow

Russian Federation

A. Yu. Shcherbina

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

Moscow

Russian Federation

References

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Copyright (c) 2021 Shvets O.A., Deordieva E.A., Kurnikova M.A., Pershin D.E., Kieva A.M., Pshonkin A.V., Smetanina N.S., Shcherbina A.Y.

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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