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;
Origin ID : 614878;
UMLS CUI : C3553961;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)