" /> Familial cold autoinflammatory syndrome 3 - CISMeF





Preferred Label : Familial cold autoinflammatory syndrome 3;

Symbol : FCAS3;

CISMeF acronym : FACU; FCAS3; PLAID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FACU; Antibody deficiency and immune dysregulation, plcg2-associated; PLAID; Familial atypical cold urticaria;

Description : Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phospholipase C, gamma-2 gene (PLCG2, 600220.0001);

Prefixed ID : #614468;

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30/07/2025


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