A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation

Lymphocyte-specific protein tyrosine kinase (LCK) is essential for T cell antigen receptor (TCR)–mediated signal transduction. Here, we report two siblings homozygous for a novel LCK variant (c.1318C>T; P440S) characterized by T cell lymphopenia with skewed memory phenotype, infant-onset recurren...

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Detalles Bibliográficos
Autores principales: Lui, Victor G., Hoenig, Manfred, Cabrera-Martinez, Berenice, Baxter, Ryan M., Garcia-Perez, Josselyn E., Bailey, Olivia, Acharya, Atanu, Lundquist, Karl, Capera, Jesusa, Matusewicz, Paul, Hartl, Frederike A., D’Abramo, Marco, Alba, Josephine, Jacobsen, Eva-Maria, Niewolik, Doris, Lorenz, Myriam, Pannicke, Ulrich, Schulz, Ansgar S., Debatin, Klaus-Michael, Schamel, Wolfgang W., Minguet, Susana, Gumbart, James C., Dustin, Michael L., Cambier, John C., Schwarz, Klaus, Hsieh, Elena W.Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644909/
https://www.ncbi.nlm.nih.gov/pubmed/37962568
http://dx.doi.org/10.1084/jem.20230927

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644909/
https://www.ncbi.nlm.nih.gov/pubmed/37962568
http://dx.doi.org/10.1084/jem.20230927

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