From syndromic clues to diagnosis: understanding CARD11-driven disorders

From syndromic clues to diagnosis: understanding CARD11-driven disorders

CARD11 is primarily expressed in hematopoietic tissues and lymphocytes and plays a crucial role in the proper activation of B and T cells in response to antigen recognition. Pathogenic variants in the CARD11 gene result in a broad spectrum of syndromic immunodeficiencies with variable severity and c...

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Bibliographic Details
Main Authors: Elena García-Martínez, María Teresa Schiaffino, Marisa Di Natale, María de las Mercedes Díaz Luna, Daniel Alejandro Viteri Álvarez, María Alejandra Mejía González
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Immunology
Subjects:
CARD11
inborn-errors-of-immunity
germline mutations
syndromic immunodeficiencies
BENTA
CADINS
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1626065/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2025.1626065/full

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