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. 
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Cold urticaria. Image voluntarily supplied by a patient, and is a part of the Autoinflammatory Alliance private image collection. Image use restricted - contact firstname.lastname@example.org