PLCG2-associated Antibody Deficiency & Immune Dysregulation (PLAID) – aka Familial Atypical Cold Urticaria (FACU) or FCAS3
Heterozygous genomic deletions within the PLCG2 gene. 
Unknown. Most reported cases with European ancestry.
Unknown but rare.
Cold-triggered. Cold urticaria, erythema and itching post cold exposure (air, wet skin, cold food). Some w/angioedema; chronic granulomata. Some with ulcerative and cutaneous lesions from cold exposure. Negative Ice cube test. 
44% with recurrent sinus and/or respiratory infections, >50% with allergies, asthma and/or autoimmune diseases. 
Not noted. Some have concurrent autoimmune diseases that may involve other organs. 
Not noted. Some need IVIG for low immunoglobulins & frequent infections. A few with combined variable immune deficiency (CVID). 
Joints bones muscles cartilage:
Not noted.   Some have concurrent autoimmune diseases that may involve the joints, such as inflammatory arthritis or undifferenciated connective tissue diseases. 
PLCG2-associated Antibody Deficiency & Immune Dysregulation, PLAID, Familial Atypical Cold Urticaria, FACU, FCAS3, cold-triggered, evaporative cooling, sinusitis, pneumonia, respiratory infections, cold-triggered, cold triggered, cold induced, cold-induced, familial cold urticaria, cold urticaria, erythema, angioedema, granulomata, granulomatous, negative Ice cube test, ice cube test, immunodeficiency, combined variable immune deficiency, CVID, autoimmune, asthma, allergy, arthritis, connective tissue, IVIG, IgE, IgA, IgG, IgM, +ANA, ANA, immunodeficiency, pulmonary, respiratory, sinus infection, nose damage, nasal damage, cold exposure lesions, cold exposure ulcers, cutaneous lesions cold, joint pain, pain,
Cold urticaria. Image voluntarily supplied by a patient, and is a part of the Autoinflammatory Alliance private image collection. Image use restricted - contact email@example.com