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familial cold autoinflammatory syndrome 3

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
Uniprot Description An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis 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.
Disease Ontology Description A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.
Mondo Term and Equivalent IDs
MONDO:0013766:  familial cold autoinflammatory syndrome 3
Orphanet:300359: 
UMLS:C3280914: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)