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Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)
Authors:Harjit Dadi  Tyler A. Jones  Daniele Merico  Nigel Sharfe  Adi Ovadia  Yael Schejter  Brenda Reid  Mark Sun  Linda Vong  Adelle Atkinson  Sasson Lavi  Joel L. Pomerantz  Chaim M. Roifman
Affiliation:1. Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada;2. Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, Ontario, Canada;3. Department of Biological Chemistry and Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, Md;4. Deep Genomics, Toronto, Ontario, Canada
Abstract:
Keywords:Caspase activation and recruitment domain family member 11  combined immunodeficiency  hypogammaglobulinemia  nuclear factor κB  cytokine secretion  T-cell repertoire  T-cell mitogen and antigen responses  autoimmunity  asthma  eczema and food allergies  atopy  BCL10  B-cell lymphoma/leukemia 10  CARD11  Caspase activation and recruitment domain family member 11  CID  Combined immunodeficiency  ID  Inhibitory domain  MALT1  Mucosa-associated lymphoid tissue lymphoma translocation gene 1  NF-κB  Nuclear factor κB  PE  Phycoerythrin  PKC  Protein kinase C  PMA  Phorbol 12-myristate 13-acetate  SCID  Severe combined immunodeficiency  TCR  T-cell receptor  WES  Whole-exome sequencing
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