Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children26710.24287/1726-1708-2019-18-3-104-111SCHOOL OF IMMUNOLOGY – EXPERT OPINIONШКОЛА ИММУНОЛОГА – МНЕНИЕ ЭКСПЕРТАThe phenomenon of reverse mutation in a patient with Wiskott–Aldrich syndromeФеномен реверсной мутации у пациента с синдромом Вискотта–Олдричаhttps://orcid.org/0000-0003-4427-054XNesterenkoZ. A.НестеренкоЗ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-1669-8621KuzmenkoN. B.КузьменкоН. Б.
Russian Federation

Natalia B. Kuzmenko, MD, PhD, the head of the department of epidemiology and monitoring of immunodeficiencies

117997, Moscow, Samory Mashela st., 1

Кузьменко Наталья Борисовна, заведующая отделом эпидемиологии и мониторинга иммунодефицитов, врач аллерголог-иммунолог КДО

117997, Москва, ГСП-7, ул. Саморы Машела, 1

plunge@list.ruhttps://orcid.org/0000-0003-1267-9957BurlakovV. I.БурлаковВ. И.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-2427-1417VictorovaE. A.ВиктороваЕ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-7247-4844VedmedskayaV. A.ВедмедскаяВ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-6148-7209PershinD. E.ПершинД. Е.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-2467-2840KievaA. M.КиеваА. М.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-0471-2956MersiyanovaI. V.МерсияноваИ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-0501-8686VarlamovaT. V.ВарламоваТ. А.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-7634-2053RaykinaE. V.РайкинаЕ. В.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-9083-4783DeripapaE. V.ДерипапаЕ. В.
Russian Federation

Moscow

Москва

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России130920191831041111309201913092019Copyright ©; 2019, «D. Rogachev NMRCPHOI»Copyright ©; 2019, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2019«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/267

Primary immunodeficiencies (PIDS) are genetically caused heterogeneous diseases of the immune system. One of the genetic phenomenon affecting the phenotypic diversity of PIDS is a reverse somatic mosaicism (RM) observed in different groups of PIDS. The majority of RM cases are described in patients with Wiskott–Aldrich syndrome (WAS). Despite the fact that PM does not always lead to a mild form of the disease, the presence of this phenomenon can cause the delay of diagnosis and start of the appropriate treatment. This article presents the case of a patient with Wiskott–Aldrich syndrome with a reverse mutation in the WAS gene. Parents gave their consent to use information about the child in the article.

Первичные иммунодефицитные состояния (ПИДС) – это гетерогенные, генетически обусловленные заболевания иммунной системы. Один из генетических феноменов, влияющих на фенотипическое разнообразие ПИДС, – реверсный соматический мозаицизм (РМ), характерный для различных групп ПИДС. Чаще всего РМ встречается у пациентов с синдромом Вискотта–Олдрича. Несмотря на то что РМ не всегда ведет к более легкому течению болезни, наличие этого феномена может влиять на скорость постановки диагноза, что сказывается на своевременности назначения адекватного лечения. В данной статье представлен случай пациента с синдромом Вискотта–Олдрича и реверсной мутацией в гене WAS. Родители пациентов дали согласие на использование информации о ребенке в научных исследованиях и публикациях.

 

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