National experience with adenosine deaminase deficiency related SCID in Polish children

Deficiency of adenosine deaminase (ADA) manifests as severe combined immunodeficiency (SCID), caused by accumulation of toxic purine degradation by-products. Untreated patients develop immune and non-immune symptoms with fatal clinical course. According to ESID and EBMT recommendations enzyme replac...

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Bibliographic Details
Published in:	Frontiers in immunology Vol. 13; p. 1058623
Main Authors:	Dąbrowska-Leonik, Nel, Piątosa, Barbara, Słomińska, Ewa, Bohynikova, Nadezda, Bernat-Sitarz, Katarzyna, Bernatowska, Ewa, Wolska-Kuśnierz, Beata, Kałwak, Krzysztof, Kołtan, Sylwia, Dąbrowska, Anna, Goździk, Jolanta, Ussowicz, Marek, Pac, Małgorzata
Format:	Journal Article
Language:	English
Published:	Switzerland Frontiers Media S.A 06-01-2023
Subjects:	adenosine deaminase (ADA) deficiency Adenosine Deaminase - genetics Child Disease Progression ERT (enzyme replacement therapy) HSCT = hematopoietic stem cell transplant Humans Immunology Infant, Newborn Intercellular Signaling Peptides and Proteins lymphopenia Poland Retrospective Studies SCID - severe combined immunodeficiency Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - therapy Poland SCID - severe combined immunodeficiency adenosine deaminase (ADA) deficiency ERT (enzyme replacement therapy) HSCT = hematopoietic stem cell transplant lymphopenia
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