" /> Autoinflammation, antibody deficiency, and immune dysregulation - CISMeF





Preferred Label : Autoinflammation, antibody deficiency, and immune dysregulation;

Symbol : APLAID;

CISMeF acronym : APLAID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated;

Description : Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by Zhou et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-2 phospholipase C gene (PLCG2, 600220.0004).;

Prefixed ID : #614878;

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13/05/2024


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