Federal clinical guidelines. Primary immunodeficiency: severe combined immunodeficiency

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  • Authors: Rodina Y.A.1, Deripapa E.V.1, Laberko A.L.1, Pershin D.E.1, Kalinina E.V.1, Raikina E.V.1, Roppelt A.A.1, Yukhacheva D.V.1, Burlakov V.I.1, Balashov D.N.1, Rumiantsev A.G.1, Shcherbina A.Y.1
  • Affiliations:
    1. Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
  • Issue: Vol 17, No 3 (2020)
  • Pages: 97-114
  • Section: Help to the practitioner
  • URL: https://rusalljournal.ru/raj/article/view/1381
  • DOI: https://doi.org/10.36691/RJA1381
  • Cite item
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Abstract


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.


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Yulia A. Rodina

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

Author for correspondence.
Email: rodina.julija@rambler.ru
ORCID iD: 0000-0001-9857-4456

Russian Federation, Moscow

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

Elena V. Deripapa

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

Email: rodina.julija@rambler.ru
ORCID iD: 0000-0002-9083-4783

Russian Federation, Moscow

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

Alexandra L. Laberko

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

Email: Alexandra-lab@yandex.ru
ORCID iD: 0000-0002-2354-2588

Russian Federation, Moscow

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)

Dmitry E. Pershin

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

Email: dimprsh@icloud.com
ORCID iD: 0000-0002-6148-7209

Russian Federation, Moscow

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

Ekaterina V. Kalinina

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

Email: rodina.julija@rambler.ru
ORCID iD: 0000-0002-4029-829X

Russian Federation, Moscow

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

Elena V. Raikina

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

Email: e_raikina@inbox.ru
ORCID iD: 0000-0002-7634-2053

Russian Federation, Moscow

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

Anna A. Roppelt

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

Email: roppelt_anna@mail.ru
ORCID iD: 0000-0001-5132-1267

Russian Federation, Moscow

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

Darya V. Yukhacheva

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

Email: yudashechka@mail.ru
ORCID iD: 0000-0001-9078-8206

Russian Federation, Moscow

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

Vasiliy I. Burlakov

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

Email: sarovas@yandex.ru
ORCID iD: 0000-0003-1267-9957

Russian Federation, Moscow

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

Dmitry N. Balashov

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

Email: Bala8@yandex.ru
ORCID iD: 0000-0003-2689-0569

Russian Federation, Moscow

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

Alexandr G. Rumiantsev

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

Email: alexrum47@mail.ru
ORCID iD: 0000-0002-1643-5960

Russian Federation, Moscow

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

Anna Yu. Shcherbina

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

Email: shcher26@hotmail.com
ORCID iD: 0000-0002-3113-4939

Russian Federation, Moscow

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

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Supplementary files

Supplementary Files Action
1. Fig. 1. Diagram of the main mechanisms of formation and differentiation of T-lymphocytes [4] View (68KB) Indexing metadata
2. Fig. 2. Diagram representing the frequency of detection of various genetic defects underlying SCID View (23KB) Indexing metadata
3. Fig. 3. Algorithm for the approach to HSCT in SCID View (246KB) Indexing metadata

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