Email this article Clinical case of type I interferonopathy: homozygous STAT2 gain-of-function mutation
- Authors: Kozlova А.L.1, Leonteva М.Е.1, Burlakov V.I.1, Nesterenko Z.А.1, Laba О.М.2, Pisareva М.V.2, Kan N.Y.1, Khoreva А.L.1, Roppelt А.А.1, Yukhacheva D.V.1, Rodina Y.A.1, Shvets O.A.1, Deordieva E.A.1, Kuzmenko N.B.1, Mukhina A.A.1, Scherbakov A.P.1, Abramov D.S.1, Tereshchenko G.V.1, Konovalov D.M.1, Novichkova G.A.1
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Affiliations:
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
- Regional Children’s Clinical Hospital
- Issue: Vol 20, No 3 (2021)
- Pages: 132-139
- Section: SCHOOL OF IMMUNOLOGY – EXPERT OPINION
- Submitted: 08.10.2021
- Accepted: 08.10.2021
- Published: 08.10.2021
- URL: https://hemoncim.com/jour/article/view/552
- DOI: https://doi.org/10.24287/1726-1708-2021-20-3-132-139
- ID: 552
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Abstract
The article is devoted to an extremely rare variant of type I interferonopathies associated with a homozygous gain of function (GOF) mutation in the STAT2 gene in a 5-year-old child. This genetic defect was first described in 2019, and so far only 3 cases are known in the world with a similar pathology. Here we present the fourth clinical case and our experience in managing a patient with STAT2 GOF. The article presents the key aspects of the pathogenesis, clinical picture based on the analysis of all known cases of the disease. The absence of established criteria and methods of treatment for this disease is due to the rarity and relative novelty of the described nosology. We present the experience of treatment using a JAK kinase inhibitor, followed by an assessment of the effectiveness of the therapy and side effects. The patient's parents agreed to use the information, including the child's photo, in scientific research and publications.
About the authors
А. L. Kozlova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 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, Department of Immunology
1 Samory Mashela St., Moscow 117997
РоссияМ. Е. Leonteva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-0799-1025
Moscow
РоссияV. I. Burlakov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-1267-9957
Moscow
РоссияZ. А. Nesterenko
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-4427-054X
Moscow
РоссияО. М. Laba
Regional Children’s Clinical Hospital
ORCID iD: 0000-0001-5784-1263
Yaroslavl
РоссияМ. V. Pisareva
Regional Children’s Clinical Hospital
ORCID iD: 0000-0002-6486-9149
Yaroslavl
РоссияN. Yu. Kan
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-3564-6496
Moscow
РоссияА. L. Khoreva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-7684-9188
Moscow
РоссияА. А. Roppelt
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-5132-1267
Moscow
РоссияD. V. Yukhacheva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-9078-8206
Moscow
РоссияYu. A. Rodina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 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, 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, 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, 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, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-3305-1694
Moscow
РоссияA. P. Scherbakov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-6359-8690
Moscow
РоссияD. S. Abramov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0003-3664-2876
Moscow
РоссияG. V. Tereshchenko
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-7317-7104
Moscow
РоссияD. M. Konovalov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-7732-8184
Moscow
РоссияG. A. Novichkova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-2322-5734
Moscow
РоссияReferences
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