Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

Human NK cell deficiency (NKD) is a primary immunodeficiency in which the main clinically relevant immunological defect involves missing or dysfunctional NK cells. Here, we describe a familial NKD case in which 2 siblings had a substantive NKD and neutropenia in the absence of other immune system ab...

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Detalles Bibliográficos
Autores principales: Conte, Matilde I., Poli, M. Cecilia, Taglialatela, Angelo, Leuzzi, Giuseppe, Chinn, Ivan K., Salinas, Sandra A., Rey-Jurado, Emma, Olivares, Nixa, Veramendi-Espinoza, Liz, Ciccia, Alberto, Lupski, James R., Aldave Becerra, Juan Carlos, Mace, Emily M., Orange, Jordan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675456/
https://www.ncbi.nlm.nih.gov/pubmed/36345943
http://dx.doi.org/10.1172/jci.insight.154948

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