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2020•Russian Journal of AllergyOpen access

Federal clinical guidelines. Primary immunodeficiency: severe combined immunodeficiency

Yulia Rodina, Elena Deripapa, Alexandra Laberko, Dmitry Pershin, Ekaterina V. Kalinina, Е. В. Райкина, Anna Roppelt, D. V. Yukhacheva, В. И. Бурлаков, Dmitry Balashov, Alexandr G. Rumiantsev, Anna Shcherbina

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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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What this paper is about

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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Available 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.

Key concepts: Primary immunodeficiency, Severe combined immunodeficiency, Immunodeficiency, Hematopoietic stem cell transplantation, Medicine, Hematopoietic cell, Immunodeficiency Syndrome, Immunologic Deficiency Syndromes

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