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Article

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

Journal of clinical immunology - 23 Nov 2024

Urban Blanca, Batlle-Masó Laura, Perurena-Prieto Janire, Garcia-Prat Marina, Parra-Martínez Alba, Aguiló-Cucurull Aina, Martinez-Gallo Mónica, Moushib Laith, Antolín María, Rivière Jacques G, Soler-Palacin Pere, Dieli-Crimi Romina, Franco-Jarava Clara, Colobran Roger

Abstract excerpt

TRAF3, a versatile adaptor protein within the TRAF family, participates in various signaling pathways involving the tumor necrosis factor receptor, toll-like receptor, and retinoic acid-inducible gene I-like receptor families. In 2010, autosomal dominant TRAF3 deficiency was reported in a patient with herpes simplex virus-1 encephalitis, consistent with the role of TRAF3 in type I interferon production. Recently,...

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Identifiers

PMID: 39579173
DOI: 10.1007/s10875-024-01833-3

Genes

TRAF3

Variants

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