Immune thrombocytopenia as the first symptom of primary immunodeficiency with immune dysregulation: a clinical case report and literature review

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Abstract

Primary immunodeficiencies constitute a large group of genetically determined disorders characterized by the impairment of mechanisms involved in the immune response. Syndromes of immune dysregulation are a group of primary immunodeficiencies that are characterized by frequent autoimmune manifestations, including immune cytopenia. CTLA4 haploinsufficiency with autoimmune infiltration is a remarkable example of immune dysregulation disorders. Here, we describe a case of CTLA4 haploinsufficiency that manifested with immune thrombocytopenia. We also review the current knowledge of etiopathogenesis, clinical manifestations and treatment of CTLA4 haploinsufficiency with autoimmune infiltration. 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

A. S. Bataev

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

Author for correspondence.
Email: ali.bataev@dgoi.ru
ORCID iD: 0000-0001-8166-1158

Ali S. Bataev - a hematologist of the Day Care Facility.

1 Samory Mashela St., 117997, Moscow

Russian Federation

D. V. Bogdanova

The 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

Russian Federation

V. I. Burlakov

The 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

Russian Federation

D. E. Pershin

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

ORCID iD: 0000-0002-6148-7209

Moscow

Russian Federation

E. A. Deordieva

The 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

Russian Federation

E. V. Suntsova

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

ORCID iD: 0000-0001-8404-1800

Moscow

Russian Federation

A. V. Pshonkin

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

ORCID iD: 0000-0002-2057-2036

Moscow

Russian Federation

Yu. A. Rodina

The 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

Russian Federation

A. Yu. Shcherbina

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

ORCID iD: 0000-0002-3113-4939

Moscow

Russian Federation

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Copyright (c) 2025 Bataev A.S., Bogdanova D.V., Burlakov V.I., Pershin D.E., Deordieva E.A., Suntsova E.V., Pshonkin A.V., Rodina Y.A., Shcherbina A.Y.

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