A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family

A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family

CARD11 is a lymphocyte-specific scaffold molecule required for proper activation of B- and T-cells in response to antigen. Germline gain-of-function (GOF) mutations in the CARD11 gene cause a unique B cell lymphoproliferative disorder known as B cell Expansion with NF-κB and T cell Anergy (BENTA). I...

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Bibliographic Details
Main Authors: Marylin Desjardins, Swadhinya Arjunaraja, Jeffrey R. Stinson, Batsukh Dorjbal, Janani Sundaresan, Julie Niemela, Mark Raffeld, Helen F. Matthews, Angela Wang, Pamela Angelus, Helen C. Su, Bruce D. Mazer, Andrew L. Snow
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Immunology
Subjects:
CARD11
BENTA
Atopy
B cell lymphocytosis
primary immumunodeficiencies
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.02944/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2018.02944/full

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