Email this article A case report of autoinflammation and PLCy2-associated antibody deficiency and immune dysregulation
- Authors: Leontyeva M.E.1, Bogdanova D.V.1, Moiseeva A.A.1, Burlakov V.I.1, Nesterenko Z.A.1, Merkushov A.Y.1, Kan N.Y.1, Khoreva A.L.1, Rodina Y.A.1, Shvets O.A.1, Deordieva E.A.1, Kuzmenko N.B.1, Mukhina A.A.1, Mersiyanova I.V.1, Raikina E.V.1, Kozlova A.L.1
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Affiliations:
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
- Issue: Vol 21, No 4 (2022)
- Pages: 163-168
- Section: SCHOOL OF IMMUNOLOGY – EXPERT OPINION
- Submitted: 28.10.2022
- Accepted: 17.11.2022
- Published: 26.12.2022
- URL: https://hemoncim.com/jour/article/view/661
- DOI: https://doi.org/10.24287/1726-1708-2022-21-4-163-168
- ID: 661
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Abstract
This paper presents a case of rare primary immunodeficiency belonging to the group of monogenic autoinflammatory diseases with PLCy2-associated antibody deficiency and immune dysregulation (APLAID). Here we describe our experience in the management of a 7-year-old child with this syndrome and discuss key information about the pathogenesis and clinical manifestations of APLAID based on the analysis of the known cases. Due to the rarity and novelty of the disease, there is a lack of established criteria for the identification and diagnosis of APLAID and no established standard of care. We report our experience of treating APLAID with a tumor necrosis factor-a inhibitor and our analysis of the effectiveness of treatment and adverse events. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.
About the authors
M. E. Leontyeva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-0799-1025
Moscow
РоссияD. V. Bogdanova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-2897-5208
Moscow
РоссияA. A. Moiseeva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-6134-3811
Moscow
РоссияV. I. Burlakov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-1267-9957
Moscow
РоссияZ. A. Nesterenko
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-4427-054X
Moscow
РоссияA. Yu. Merkushov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-9517-5046
Moscow
РоссияN. Yu. Kan
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-3564-6496
Moscow
РоссияA. L. Khoreva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-7684-9188
Moscow
РоссияYu. A. Rodina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-9857-4456
Moscow
РоссияO. A. Shvets
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-5347-7150
Moscow
РоссияE. A. Deordieva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-8208-2075
Moscow
РоссияN. B. Kuzmenko
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-1669-8621
Moscow
РоссияA. A. Mukhina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-3305-1694
Moscow
РоссияI. V. Mersiyanova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-0471-2956
Moscow
РоссияE. V. Raikina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-7634-2053
Moscow
РоссияA. L. Kozlova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Author for correspondence.
Email: annamax-99@mail.ru
ORCID iD: 0000-0002-2869-6535
Anna L. Kozlova, Cand. Med. Sci., a senior researcher at the Department of Treatment Optimization for Immunodeficiencies
117997, Moscow, Samory Mashela St., 1
РоссияReferences
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