familial cold autoinflammatory syndrome 3

Term ID

DOID:0090064

Synonyms

• FACU
• familial atypical cold urticaria
• FCAS3
• phospholipase C gamma 2-associated antibody deficiency and immune dysregulation
• PLAID
• PLCG2-associated antibody deficiency and immune dysregulation

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/22236196

References

• ICD10CM:L50.2
• MIM:614468
• ORDO:300359

Ontology

Human Disease   ( DOID:0090064 )