GTR Home > Conditions/Phenotypes > Familial cold autoinflammatory syndrome 3

Summary

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). [from OMIM]

Available tests

20 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: APLAID, FCAS3, PLC-IV, PLC-gamma-2, PLCG2
    Summary: phospholipase C gamma 2

Clinical features

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