PLAID syndrome | |
---|---|
Other names | PLCG2-associated antibody deficiency and immune dysregulation |
![]() | |
PLAID syndrome is inherited via an autosomal dominant manner | |
Specialty | Dermatology ![]() |
PLAID syndrome is an inherited condition characterised by antibody deficiency and immune dysregulation, first described in 2012. The name is an acronym of "PLCG2-associated antibody deficiency and immune dysregulation". It is characterised by cold-induced urticaria, autoimmunity, atopy and humoral immune deficiency.[1]
This condition is characterised by cold induced urticaria, autoimmunity, atopy and humoral immune deficiency.[2] The humeral immune deficiency results in recurrent bronchopulmonary infections. Cutaneous granulomas may also occur.[citation needed]
The urticaria usually appears within 12 months of birth but may appear immediately after birth.[3] Swallowing cold materials may be associated with discomfort.[citation needed]
Autoimmune thyroiditis and vitiligo may occur. Recurrent infections may lead to the development of bronchiectasis.
The syndrome is caused by mutations in the phospholipase C gamma 2 (PLCG2) gene.[4][5] This gene is located on the long arm of chromosome 16 (16q23.3).[6]
The pathogenesis of this condition is not understood. It is however known that phospholipase C gamma is an important signalling mediation for natural killer cells.[7]
Two thirds of patients have positive anti nuclear antibodies. The IgM levels are usually low and a low IgA is common. There is a poor antibody response to pneumococcal vaccines. The natural killer cells are low or low normal. Switched memory B cells (IgM, IgD, CD27+) may be present in the blood.[citation needed]
This is considered a rare condition, with 30 patients described in the literature up to 2019.[9]
This condition was first described in 2012.[10] The name is an acronym of PLCG2-associated antibody deficiency and immune dysregulation.[citation needed]