Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 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.).


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