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Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency

SASH3 is a lymphoid-specific adaptor protein. In a recent study, SASH3 deficiency was described as a novel X-linked combined immunodeficiency with immune dysregulation, associated with impaired TCR signaling and thymocyte survival in humans. The small number of patients reported to date showed recur...

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Detalles Bibliográficos
Autores principales:	Labrador-Horrillo, Moisés, Franco-Jarava, Clara, Garcia-Prat, Marina, Parra-Martínez, Alba, Antolín, María, Salgado-Perandrés, Sandra, Aguiló-Cucurull, Aina, Martinez-Gallo, Mónica, Colobran, Roger
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/PMC9027814/ https://www.ncbi.nlm.nih.gov/pubmed/35464398 http://dx.doi.org/10.3389/fimmu.2022.881206

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