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GENATLAS PHENOTYPE

last update : 30-05-2018

Symbol	PLAID
Location	16q24.1
Name	PLCG2-associated antibody deficiency and immune dysregulation
Other name(s)	autoinflammation, antibody deficiency, and immune dysregulation syndrome familial cold autoinflammatory syndrome 3
Corresponding gene	PLCG2
Other symbol(s)	APLAID, FCAS3
Main clinical features	recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract bronchiolitis, arthralgia, ocular inflammation, enterocolitis, absence of autoantibodies, and mild immunodeficiency mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies
Genetic determination	autosomal dominant
Related entries	including APLAID (OMIM 614878)
Function/system disorder	defense and immunity
Type	disease

Remark(s)

genomic deletions disrupt the SH2 domain of PLCG2, causing failure of autoinhibition and resulting in constitutive phospholipase activity (PMID: 23000145))