A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family-Reference-Cited by-同舟云学术

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

Published:2018-12-12 Issue: Volume:9 Page:
ISSN:1664-3224
Container-title:Frontiers in Immunology
language:
Short-container-title:Front. Immunol.

Author:

Desjardins Marylin,Arjunaraja Swadhinya,Stinson Jeffrey R.,Dorjbal Batsukh,Sundaresan Janani,Niemela Julie,Raffeld Mark,Matthews Helen F.,Wang Angela,Angelus Pamela,Su Helen C.,Mazer Bruce D.,Snow Andrew L.

Funder

National Institute of Allergy and Infectious Diseases

Division of Intramural Research, National Institute of Allergy and Infectious Diseases

McGill University

AllerGen

Publisher

Frontiers Media SA

Subject

Immunology,Immunology and Allergy

Reference19 articles.

1. Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling;Arjunaraja;Curr Opin Allergy Clin Immunol,2015

2. The CBM-opathies-a rapidly expanding spectrum of human inborn errors of immunity caused by mutations in the CARD11-BCL10-MALT1 complex;Lu;Front Immunol,2018

3. Oncogenic CARD11 mutations in human diffuse large B cell lymphoma;Lenz;Science,2008

4. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations;Snow;J Exp Med,2012

5. The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency;Turvey;J Allergy Clin Immunol,2014

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