This condition is characterised by cold induced urticaria, autoimmunity, atopy and humoral immune deficiency. The humeral immune deficiency results in recurrent bronchopulmonary infections. Cutaneous granulomas may also occur. The urticaria usually appears within 12 months of birth but may appear immediately after birth. Swallowing cold materials may be associated with discomfort. Autoimmune thyroiditis and vitiligo may occur. Recurrent infections may lead to the development of bronchiectasis.
PLAID syndrome
TEMPI syndrome
MASA syndrome
Bogart–Bacall syndrome
SAHA syndrome
IPEX syndrome
EAST syndrome
3C syndrome