Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children56810.24287/1726-1708-2021-20-4-125-133ORIGINAL ARTICLESОРИГИНАЛЬНЫЕ СТАТЬИAnalysis of familial cases of primary immunodeficiency in the context of genetic counselingАнализ семейных случаев первичных иммунодефицитов в контексте генетического консультированияhttps://orcid.org/0000-0002-1669-8621KuzmenkoN. B.КузьменкоН. Б.
Russian Federation

cand. med. sci., Head of the Department of Epidemiology and Monitoring of Immunodeficiencies, an allergistimmunologist at the Outpatient Department,

1 Samory Mashela St., Moscow 117997

канд. мед. наук, заведующая отделом эпидемиологии и мониторинга иммунодефицитов, врач-аллерголог-иммунолог консультативного отделения,

117997, Москва, ул. Саморы Машела, 1

plunge@list.ruhttps://orcid.org/0000-0002-3305-1694MukhinaA. A.МухинаА. А.
Russian Federation

1 Samory Mashela St., Moscow 117997

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0001-9857-4456RodinaYu. A.РодинаЮ. А.
Russian Federation

1 Samory Mashela St., Moscow 117997

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0002-2869-6535KozlovaA. L.КозловаА. Л.
Russian Federation

1 Samory Mashela St., Moscow 117997

117997, Москва, ул. Саморы Машела, 1

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

1 Samory Mashela St., Moscow 117997

117997, Москва, ул. Саморы Машела, 1

ViktorovaE. A.ВиктороваЕ. А.
Russian Federation

1 Samory Mashela St., Moscow 117997

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0001-9078-8206YukhachevaD. V.ЮхачёваД. В.
Russian Federation

1 Samory Mashela St., Moscow 117997

117997, Москва, ул. Саморы Машела, 1

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

1 Samory Mashela St., Moscow 117997

117997, Москва, ул. Саморы Машела, 1

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

1 Samory Mashela St., Moscow 117997

117997, Москва, ул. Саморы Машела, 1

https://orcid.org/0000-0002-3113-4939ShcherbinaA. Yu.ЩербинаА. Ю.
Russian Federation

1 Samory Mashela St., Moscow 117997

117997, Москва, ул. Саморы Машела, 1

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России221220212041251332112202121122021Copyright ©; 2021, «D. Rogachev NMRCPHOI»Copyright ©; 2021, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2021«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/568

Primary immunodeficiencies (PID) are caused by defects in genes of immune system. The mutations may occur de novo or can be inherited. The frequency of familial PID cases varies in different populations and depends on multiple factors. The aim of this study was to analyze familial PID cases among pediatric patients from NMRCPHOI D. Rogachev. The study was approved by the Independent Ethics Committee and the Scientific Council of the D. Rogachev NMRCPHOI. 1075 children from 1020 families with molecular PID diagnosis were analyzed retrospectively. One hundred and forty-six children had at least one relative with the same disorder; mutations were identified in 31 PID’s genes. The frequency of familial cases was 13.6%. The proportion of families with two or more affected children was 5.4%. Patients born in a consanguineous marriage made up 3% of the observed children. Autosomal dominant PID were typical for families with affected adult relatives. Because of the high amount of familial cases, all parents of children with PID as well as adult PID patients of childbearing age should seek a familial genetic counselling immediately after the corresponding diagnosis. Patients whose PID diagnosis has not been genetically verified, should be urgently tested to find an underlying molecular genetic cause of the disease. Prenatal/preimplantation diagnostic and screening of their close relatives are very important in these families. 

Первичные иммунодефициты (ПИД) обусловлены дефектами в генах, контролирующих работу иммунной системы. Мутации могут возникать de novo или передаваться по наследству. Частота семейных случаев ПИД варьирует в различных популяциях и зависит от множества факторов. Целью данного исследования стал анализ семейных случаев ПИД пациентов детского возраста НМИЦ ДГОИ им. Дмитрия Рогачева. Данное исследование одобрено независимым этическим комитетом и утверждено решением ученого совета НМИЦ ДГОИ им. Дмитрия Рогачева. Ретроспективно проанализированы 1075 детей с генетически подтвержденным диагнозом ПИД. У 146 детей выявлен хотя бы 1 родственник с тем же диагнозом, мутации локализованы в 31 гене, ответственном за развитие ПИД. Частота семейных случаев составила 13,6%. Доля семей, где больны 2 детей и более, составила 5,4%. В семьях с больными сиблингами преобладают ПИД с аутосомно-рецессивным типом наследования, при этом в большинстве случаев родители не являются кровными родственниками. Пациенты, рожденные от близкородственного брака, составляют 3% от общей когорты. В семьях, где больны и взрослый, и ребенок, преобладают ПИД с аутосомно-доминантным типом наследования. Принимая во внимание высокую частоту семейных случаев, всем родителям пациентов и взрослым детородного возраста с ПИД показано семейное генетическое консультирование в кратчайшие сроки после постановки диагноза. Для пациентов с генетически неверифицированным диагнозом ПИД показан незамедлительный поиск молекулярно-генетической причины заболевания для возможности проведения пренатальной/ преимплантационной диагностики в семьях и обследования кровных родственников. 

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