Cold Urticaria, Immunodeficiency, and Autoimmunity Related to <i>PLCG2</i> Deletions

Abstract

Genomic deletions in PLCG2 cause gain of PLCγ(2) function, leading to signaling abnormalities in multiple leukocyte subsets and a phenotype encompassing both excessive and deficient immune function. (Funded by the National Institutes of Health Intramural Research Programs and others.).