Article
Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).
The Journal of allergy and clinical immunology - 1 May 2018
Dadi Harjit, Jones Tyler A, Merico Daniele, Sharfe Nigel, Ovadia Adi, Schejter Yael, Reid Brenda, Sun Mark, Vong Linda, Atkinson Adelle, Lavi Sasson, Pomerantz Joel L, Roifman Chaim M
Abstract excerpt
BACKGROUND: Combined immunodeficiency (CID) is a T-cell defect frequently presenting with recurrent infections, as well as associated immune dysregulation manifesting as autoimmunity or allergic inflammation. OBJECTIVE: We sought to identify the genetic aberration in 4 related patients with CID, early-onset asthma, eczema, and food allergies, as well as autoimmunity. METHODS: We performed whole-exome sequencing,...
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