Clinical case of type I interferonopathy: homozygous STAT2 gain-of-function mutation

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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 

Russian Federation

М. 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

Russian Federation

V. 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

Russian Federation

Z. 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

Russian Federation

О. М. Laba

Regional Children’s Clinical Hospital

ORCID iD: 0000-0001-5784-1263

Yaroslavl

Russian Federation

М. V. Pisareva

Regional Children’s Clinical Hospital

ORCID iD: 0000-0002-6486-9149

Yaroslavl

Russian Federation

N. 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

Russian Federation

А. 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

Russian Federation

А. 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

Russian Federation

D. 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

Russian Federation

Yu. 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

Russian Federation

O. 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

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

N. 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

Russian Federation

A. 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

Russian Federation

A. 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

Russian Federation

D. 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

Russian Federation

G. 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

Russian Federation

D. 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

Russian Federation

G. 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

Russian Federation

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Copyright (c) 2021 Kozlova А.L., Leonteva М.Е., Burlakov V.I., Nesterenko Z.А., Laba О.М., Pisareva М.V., Kan N.Y., Khoreva А.L., Roppelt А.А., Yukhacheva D.V., Rodina Y.A., Shvets O.A., Deordieva E.A., Kuzmenko N.B., Mukhina A.A., Scherbakov A.P., Abramov D.S., Tereshchenko G.V., Konovalov D.M., Novichkova G.A.

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