antibioticsАнтибиотики и ХимиотерапияAntibiot Khimioter = Antibiotics and Chemotherapy0235-2990ООО «Издательство ОКИ»10.37489/0235-2990-2024-69-3-4-51-57KKPVRMantibiotics-1125Research ArticleКЛИНИЧЕСКИЕ ИССЛЕДОВАНИЯ И ПРАКТИКАGUIDELINES FOR PRACTITIONERSСлучай первичного иммунодефицита с иммунной дисрегуляцией: особенности клинической манифестации и сложности диагностикиA case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficultieshttps://orcid.org/0000-0002-4692-4802СеребряковаЕ. Н.SerebryakovaE. N.

Серебрякова Елена Николаевна — д. м. н., профессор кафедры госпитальной педиатрии; декан факультета клинической психологии

Челябинск

ResearcherID: ABG-8330-2021. Scopus Author ID: 36020648000

Elena N. Serebryakova — D. Sc. in Medicine, Professor of the Department of Hospital Pediatrics; Dean of the Faculty of Clinical Psychology

Chelyabinsk

ResearcherID: ABG-8330-2021. Scopus Author ID: 36020648000

doctor-hit@yandex.ruhttps://orcid.org/0000-0001-9826-9654ШиловаТ. В.ShilovaT. V.

Шилова Татьяна Васильевна — к. м. н., доцент кафедры госпитальной педиатрии; декан педиатрического факультета

Челябинск

ResearcherID: JZS-8764-2024. Scopus Author ID: 57211799427

Tatiana V. Shilova — Ph. D. in Medicine, Associate Professor at the Department of Hospital Pediatrics

Chelyabinsk

ResearcherID: JZS-8764-2024. Scopus Author ID: 57211799427

https://orcid.org/0009-0008-5400-3043КожевниковА. С.KozhevnikovA. S.

Кожевников Артем Сергеевич — старший лаборант кафедры госпитальной педиатрии, ординатор второго года обучения по специальности Неонатология

Челябинск

ResearcherID: RID72103. Scopus Author ID: 58103491300

Artem S. Kozhevnikov — Senior laboratory assistant at the Department of Hospital Pediatrics; Second-year resident majoring in Neonatology

Chelyabinsk

ResearcherID: RID72103. Scopus Author ID: 58103491300

https://orcid.org/0009-0005-3745-9514КильмухаметоваЭ. И.KilmukhametovaE. I.

Кильмухаметова Элина Ильясовна — студентка 6 курса педиатрического факультета; медицинская сестра отделения новорожденных

Челябинск

ResearcherID: RID72101

Elina I. Kilmukhametova — 6th year student of the Pediatric Faculty; Nurse of the Neonatal Department

Chelyabinsk

ФГБОУ ВО Южно-Уральский государственный медицинский университет Минздрава России; Челябинская областная детская клиническая больницаРоссияSouth Ural State Medical University of the Ministry of Health of the Russian Federation; Chelyabinsk Regional Children's Clinical HospitalRussian Federation202421062024693-45157Copyright © Серебрякова Е.Н., Шилова Т.В., Кожевников А.С., Кильмухаметова Э.И., 20242024Серебрякова Е.Н., Шилова Т.В., Кожевников А.С., Кильмухаметова Э.И.Serebryakova E.N., Shilova T.V., Kozhevnikov A.S., Kilmukhametova E.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.antibiotics-chemotherapy.ru/jour/article/view/1125

В статье представлено описание случая редкого первичного иммунодефицита с иммунной дисрегуляцией — дефицита CD25 c манифестацией в неонатальном периоде в виде тяжёлой хронической диареи, подверженности вирусным, бактериальным, грибковым инфекциям, аутоиммунными проявлениями, синдромом мальабсорбции, гипотрофией, поражением кожи, подтверждённого обнаруженной при анализе ДНК гомозиготной мутацией в гене IL2-RA. В статье рассматривается роль IL2-RA в созревании и дифференцировке Т-лимфоцитов, современные подходы к классификации первичных иммунодефицитов с иммунной дисрегуляцией, принципы диагностики и лечения дефицита CD25, проводится анализ и сопоставление других описанных в литературе случаев дефицита CD25.

The article describes a case of a rare primary immunodeficiency with immune dysregulation — CD25 deficiency with manifestation in the neonatal period in the form of severe chronic diarrhea, susceptibility to viral, bacterial, and fungal infections, autoimmune manifestations, malabsorption syndrome, hypotrophy, skin lesions, confirmed by a homozygous mutation in the IL2-RA gene detected by DNA analysis. The article discusses the role of IL2-RA in the maturation and differentiation of T-lymphocytes, modern approaches to the classification of primary immunodeficiencies with immune dysregulation, principles of diagnosis and treatment of CD25 deficiency, as well as analyzes and compares other cases of CD25 deficiency described in the literature.

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The authors declare that there are no conflicts of interest present.