The autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is an autosomal dominant disorder. It is characterized by skin lesions, arthralgia, ocular inflammation, and inflammatory bowel disease. Immunoglobulins are reduced and mild immunodeficiency manifests by recurrent infections of the upper respiratory tract.
1. |
Yu P et al. (2005) Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry. |
2. |
Everett KL et al. (2009) Characterization of phospholipase C gamma enzymes with gain-of-function mutations. |
3. |
Zhou Q et al. (2012) A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. |