Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)

Article ID	Journal	Published Year	Pages	File Type
8713191	Journal of Allergy and Clinical Immunology	2018	44 Pages	PDF

Abstract

Unlike patients with biallelic mutations in CARD11 causing severe CID, the R30W defect results in a less profound yet prominent susceptibility to infections, as well as multiorgan atopy and autoimmunity.

Keywords

CID CARD11 TCr MALT1 BCL10 WES phorbol 12-myristate 13-acetate NF-κB PKC SCID PMA Atopy Asthma Cytokine secretion Whole-exome sequencing autoimmunity Inhibitory domain T-cell repertoire nuclear factor κB phycoerythrin Hypogammaglobulinemia Protein kinase C Combined immunodeficiency severe combined immunodeficiency T-cell receptor

Related Topics

Life Sciences Immunology and Microbiology Immunology

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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 PhD, Tyler A. BS, Daniele PhD, Nigel PhD, Adi MD, Yael MD, Brenda MN, Mark PhD, Linda PhD, Adelle MD, Sasson MD, Joel L. PhD, Chaim M. MD,