Russian Journal of AllergyRussian Journal of AllergyРоссийский Аллергологический Журнал1810-88302686-682XPublishing House ABV Press138110.36691/RJA1381Help to the practitionerВ помощь практикующему врачуResearch ArticleFederal clinical guidelines. Primary immunodeficiency: severe combined immunodeficiencyФедеральные клинические рекомендации. Первичный иммунодефицит: тяжелая комбинированная иммунная недостаточностьhttps://orcid.org/0000-0001-9857-4456RodinaYulia A.РодинаЮлия Александровна
Russian Federation

allergologist-immunologist of Immunology Department, Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation, member of the National Association of Experts of Primary Immunodeficiency (NAEPID), member of the National Society of Pediatric Hematologists and Oncologists (NSPHO), member of the European Society of Primary Immunodeficiency (ESID), MD, PhD

врач аллерголог-иммунолог отделения иммунологии НМИЦ ДГОИ, член Национального общества экспертов в области первичных иммунодефицитов, член Национального общества детских гематологов и онкологов, член международного европейского сообщества первичных иммунодефицитов ESID, кандидат медицинских наук

rodina.julija@rambler.ruhttps://orcid.org/0000-0002-9083-4783DeripapaElena V.ДерипапаЕлена Васильевна
Russian Federation

allergologist-immunologist of Immunology Department, Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation, member of the National Association of Experts of Primary Immunodeficiency (NAEPID), member of the National Society of Pediatric Hematologists and Oncologists (NSPHO), member of the European Society of Primary Immunodeficiency (ESID), MD, PhD

врач аллерголог-иммунолог отделения иммунологии НМИЦ ДГОИ, член Национального общества экспертов в области первичных иммунодефицитов, член Национального общества детских гематологов и онкологов, член международного европейского сообщества первичных иммунодефицитов ESID, кандидат медицинских наук

rodina.julija@rambler.ruhttps://orcid.org/0000-0002-2354-2588LaberkoAlexandra L.ЛаберкоАлександра Л.
Russian Federation

PhD, MD of immunology department Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation, member of the National Association of Experts of Primary Immunodeficiency (NAEPID), member of the National Society of Pediatric Hematologists and Oncologists (NSPHO), member of the European Society of Primary Immunodeficiency (ESID)

врач аллерголог-иммунолог отделения иммунологии НМИЦ ДГОИ, член Национального общества экспертов в области первичных иммунодефицитов, член Национального общества детских гематологов и онкологов, член международного европейского сообщества первичных иммунодефицитов ESID, кандидат медицинских наук

Alexandra-lab@yandex.ruhttps://orcid.org/0000-0002-6148-7209PershinDmitry E.ПершинДмитрий Евгеньевич
Russian Federation

Head of Laboratory of Transplantation Immunology and Immunotherapy of Hemoblastosis, Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation

зав. лабораторией трансплантационной иммунологии и иммунотерапии гемобластозов НИМЦ ДГОИ

dimprsh@icloud.comhttps://orcid.org/0000-0002-4029-829XKalininaEkaterina V.КалининаЕкатерина Викторовна
Russian Federation

researcher of Laboratory of Molecular Immunology, Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation

врач клинической и лабораторной диагностики, лаборатория молекулярной иммунологии НМИЦ ДГОИ

rodina.julija@rambler.ruhttps://orcid.org/0000-0002-7634-2053RaikinaElena V.РайкинаЕлена Владиславовна
Russian Federation

head of the Laboratory of Molecular Biology, Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation

зав. лабораторией молекулярной биологии НМИЦ ДГОИ

e_raikina@inbox.ruhttps://orcid.org/0000-0001-5132-1267RoppeltAnna A.РоппельтАнна Артуровна
Russian Federation

allergologist-immunologist of Immunology Department, Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation, member of the National Association of Experts of Primary Immunodeficiency (NAEPID), member of the National Society of Pediatric Hematologists and Oncologists (NSPHO), member of the European Society of Primary Immunodeficiency (ESID), MD

врач аллерголог-иммунолог отделения иммунологии НМИЦ ДГОИ, член Национального общества экспертов в области первичных иммунодефицитов, член Национального общества детских гематологов и онкологов, член международного европейского сообщества первичных иммунодефицитов ESID

roppelt_anna@mail.ruhttps://orcid.org/0000-0001-9078-8206YukhachevaDarya V.ЮхачеваДарья Валерьевна
Russian Federation

allergologist-immunologist of Immunology Department, Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation, member of the National Association of Experts of Primary Immunodeficiency (NAEPID), member of the National Society of Pediatric Hematologists and Oncologists (NSPHO), member of the European Society of Primary Immunodeficiency (ESID), MD

врач аллерголог-иммунолог отделения иммунологии НМИЦ ДГОИ, член Национального общества экспертов в области первичных иммунодефицитов, член Национального общества детских гематологов и онкологов, член международного европейского сообщества первичных иммунодефицитов ESID

yudashechka@mail.ruhttps://orcid.org/0000-0003-1267-9957BurlakovVasiliy I.БурлаковВасилий Игоревич
Russian Federation

allergologist-immunologist of Immunology Department, Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation, member of the National Association of Experts of Primary Immunodeficiency (NAEPID), member of the National Society of Pediatric Hematologists and Oncologists (NSPHO), member of the European Society of Primary Immunodeficiency (ESID), MD

врач аллерголог-иммунолог отделения иммунологии НМИЦ ДГОИ, член Национального общества экспертов в области первичных иммунодефицитов, член Национального общества детских гематологов и онкологов

sarovas@yandex.ruhttps://orcid.org/0000-0003-2689-0569BalashovDmitry N.БалашовДмитрий Николаевич
Russian Federation

head of the Department of Hematopoietic Stem Cell Transplantation No. 2 Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation, member of the National Association of Experts of Primary Immunodeficiency (NAEPID), member of the National Society of Pediatric Hematologists and Oncologists (NSPHO), member of the European Society of Primary Immunodeficiency(ESID), PhD

зав. отделением трансплантации гемопоэтических стволовых клеток № 2 НМИЦ ДГОИ, член Национального общества экспертов в области первичных иммунодефицитов, член Национального общества детских гематологов и онкологов, член Европейского общества иммунодефицитов, доктор медицинских наук

Bala8@yandex.ruhttps://orcid.org/0000-0002-1643-5960RumiantsevAlexandr G.РумянцевАлександр Григорьевич
Russian Federation

president of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia, President of the National Association of Experts of Primary Immunodeficiency (NAEPID), member of the National Society of Pediatric Hematologists and Oncologists (NSPHO), member of the European Society of Hematology (ESH), PhD, professor, Academician of the Russian Academy of Science

президент Национального общества экспертов в области первичных иммунодефицитов, член Национального общества детских гематологов и онкологов, член Европейского общества гематологов, доктор медицинских наук, профессор, академик РАМН

alexrum47@mail.ruhttps://orcid.org/0000-0002-3113-4939ShcherbinaAnna Yu.ЩербинаАнна Юрьевна
Russian Federation

head of Immunology Department Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of the Russian Federation, member of the National Association of Experts of Primary Immunodeficiency (NAEPID), member of the National Society of Pediatric Hematologists and Oncologists (NSPHO), member of the European Society of Primary Immunodeficiency (ESID), PhD, professor

зав. отделением иммунологии НМИЦ ДГОИ, исполнительный директор Национального общества экспертов в области первичных иммунодефицитов, член Национального общества детских гематологов и онкологов, член Европейского общества иммунодефицитов, доктор медицинских наук

shcher26@hotmail.comDmitry Rogachev National Research Center of Pediatric Hematology, Oncology and ImmunologyНациональный медицинский исследовательский центр детской гематологии, онкологии и иммунологии имени Дмитрия Рогачева29102020173971142407202009092020Copyright ©; 2020, Pharmarus Print MediaCopyright ©; 2020, Фармарус Принт Медиа2020Pharmarus Print MediaФармарус Принт Медиаhttps://rusalljournal.ru/raj/article/view/1381

Severe combined immunodeficiency (SCID) is the most life-threatening form of primary immunodeficiency, fatal within the first years of life if hematopoietic stem cell transplantation (HSCT) is not performed. Early diagnosis is crucial for prevention of multiple life-threatening complications, which in turn allows for successful HSCT. Current publication contains clinical recommendations for diagnosis of SCID and its complications, complex treatment, including HSCT, prenatal diagnostics and genetic family counselling.

Тяжелая комбинированная иммунная недостаточность (ТКИН) является самой жизнеугрожающей формой первичных иммунодефицитных состояний, приводящей к гибели пациента, если не проведена трансплантация гемопоэтических стволовых клеток (ТГСК) в первые годы жизни. Ранняя диагностика заболевания позволяет избежать развития множественных жизнеугрожающих осложнений, максимально сохранить удовлетворительным соматический статус пациента, что в свою очередь является ключевым условием для успешного проведения ТГСК. В данных клинических рекомендациях представлен подробный алгоритм диагностики ТКИН и ее осложнений, комплексный подход к терапии, включая ТГСК, освещены вопросы пренатальной диагностики и генетического консультирования семьи.

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