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Potekaev N.N.

Moscow Scientific and Practical Center of Dermatovenerology and Cosmetology;
The Russian National Research Medical University named after N.I. Pirogov

Zhukova O.V.

Moscow Research and Practical Center for Dermatovenereology and Cosmetology, Department of Healthcare;
Peoples’ Friendship University of Russia

Pampura A.N.

Shcherbina A.Y.

Institute of Hematology, Immunology and Cell Technologies of National Medical Research Center for Pediatric Hematology, Oncology and Immunology

Zimin S.B.

Department of allergology and immunology of children state clinical hospital No. 9 named after G.N. Speransky

Serov D.N.

European Medical Center

Gauf E.A.

Moscow Scientific and Practical Center of Dermatovenerology and Cosmetology

Lupashko O.V.

Moscow Scientific and Practical Center of Dermatovenerology and Cosmetology

Bobko S.I.

Moscow Scientific and Practical Center of Dermatology, Venereology and Cosmetology of Moscow City Health Department

Myakova N.V.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

Pshonkin A.V.

National medical investigatory center of children hematology, oncology and immunology named after Dmitry Rogachev of the Ministry of Health of the Russian Federation

Shpizina I.P.

National medical investigatory center of children hematology, oncology and immunology named after Dmitry Rogachev of the Ministry of Health of the Russian Federation

Combination of homozygotic mutation CORO1A and verruciform epidermodysplasia in a 13-year old female patient

Authors:

Potekaev N.N., Zhukova O.V., Pampura A.N., Shcherbina A.Y., Zimin S.B., Serov D.N., Gauf E.A., Lupashko O.V., Bobko S.I., Myakova N.V., Pshonkin A.V., Shpizina I.P.

More about the authors

Journal: Russian Journal of Clinical Dermatology and Venereology. 2023;22(2): 165‑172

DOI: 10.17116/klinderma202322021165

Read: 1507 times

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Table of contents

COMBINATION OF HOMOZYGOTIC MUTATION CORO1A AND VERRUCIFORM EPIDERMODYSPLASIA IN A 13-YEAR OLD FEMALE PATIENT
COMBINATION OF HOMOZYGOTIC MUTATION CORO1A AND VERRUCIFORM EPIDERMODYSPLASIA IN A 13-YEAR OLD FEMALE PATIENT

To cite this article:

Potekaev NN, Zhukova OV, Pampura AN, et al. . Combination of homozygotic mutation CORO1A and verruciform epidermodysplasia in a 13-year old female patient. Russian Journal of Clinical Dermatology and Venereology. 2023;22(2):165‑172. (In Russ.)
https://doi.org/10.17116/klinderma202322021165

Подписка 2026 Клиническая дерматология и венерология (Russian Journal of Clinical Dermatology and Venereology)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

Severe combined immunodeficiency (SCID) represents a wide class of various genetic etiologies primary immunodeficiency diseases and some of them have wide variety of clinical characteristics connected with their specific mutations. Strong combined immunodeficiency disorder usually develops in infancy or early childhood and connected with severe bacterial, viral and / or fungal infections due to mutations in the genes that are responsible for the development of T-cells and B-cells sometimes. Coronin-1A deficiency is one of the most current forms of SCID that were recently detected. In this article we present a rare clinical case of a patient, 13-years old, who had the homozygotic mutation CORO1A with epidermodysplasia verruciformis with severe immunodeficiency-associated granulomatous skin lesion. Her father was revealed a similar replacement of one nucleotide c.19C> T in the homozygous state, leading to the replacement of the amino acid p.Arg7Cys. Positive dynamics was detected on the background of complex treatment with immunoglobulin and external therapy with topical corticosteroids, allogenic transplantation by hematopoietic stem cell from of peripheral blood from haploidentical relative donor (mother) was done with clinical improvement on lesions.

Keywords:

homozygotic mutation CORO1A
epidermodysplasia verruciformis
severe combined immunodeficiency
granulomatous skin lesion

Authors:

Potekaev N.N.

Moscow Scientific and Practical Center of Dermatovenerology and Cosmetology;
The Russian National Research Medical University named after N.I. Pirogov

Zhukova O.V.

Moscow Research and Practical Center for Dermatovenereology and Cosmetology, Department of Healthcare;
Peoples’ Friendship University of Russia

Pampura A.N.

Shcherbina A.Y.

Institute of Hematology, Immunology and Cell Technologies of National Medical Research Center for Pediatric Hematology, Oncology and Immunology

Zimin S.B.

Department of allergology and immunology of children state clinical hospital No. 9 named after G.N. Speransky

Serov D.N.

European Medical Center

Gauf E.A.

Moscow Scientific and Practical Center of Dermatovenerology and Cosmetology

Lupashko O.V.

Moscow Scientific and Practical Center of Dermatovenerology and Cosmetology

Bobko S.I.

Moscow Scientific and Practical Center of Dermatology, Venereology and Cosmetology of Moscow City Health Department

Myakova N.V.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

Pshonkin A.V.

National medical investigatory center of children hematology, oncology and immunology named after Dmitry Rogachev of the Ministry of Health of the Russian Federation

Shpizina I.P.

National medical investigatory center of children hematology, oncology and immunology named after Dmitry Rogachev of the Ministry of Health of the Russian Federation

Received:

28.11.2022

Accepted:

24.02.2023

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