Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation

DNA ligase I deficiency is an extremely rare primary immunodeficiency with only 6 patients reported in the literature. Most common manifestations include radiosensitivity, macrocytic anemia, lymphopenia with an increased percentage of gamma-delta T cells, and hypogammaglobulinemia requiring replacem...

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Bibliographic Details
Main Authors: Nel Dabrowska-Leonik, Agata Karolina Pastorczak, Katarzyna Bąbol-Pokora, Katarzyna Bernat-Sitarz, Barbara Piątosa, Edyta Heropolitańska-Pliszka, Magdalena M. Kacprzak, Krzysztof Kalwak, Katarzyna Gul, Mirjam van der Burg, Marek Ussowicz, Malgorzata Pac
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Immunology
Subjects:
ligase 1
immunodeficiency
Omenn-like
hematopoietic stem cell transplantation (HCST)
Immunoglobilins
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.1033338/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2022.1033338/full

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