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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Detalles Bibliográficos
Autores principales: Dabrowska-Leonik, Nel, Pastorczak, Agata Karolina, Bąbol-Pokora, Katarzyna, Bernat-Sitarz, Katarzyna, Piątosa, Barbara, Heropolitańska-Pliszka, Edyta, Kacprzak, Magdalena M., Kalwak, Krzysztof, Gul, Katarzyna, van der Burg, Mirjam, Ussowicz, Marek, Pac, Malgorzata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626757/
https://www.ncbi.nlm.nih.gov/pubmed/36341401
http://dx.doi.org/10.3389/fimmu.2022.1033338

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626757/
https://www.ncbi.nlm.nih.gov/pubmed/36341401
http://dx.doi.org/10.3389/fimmu.2022.1033338

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