Autoinflammation, antibody deficiency, and immune dysregulation

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;

Détails

Origin ID

614878;

UMLS CUI

C3553961;

Automatic exact mappings (from CISMeF team)
- PLCG2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) [SNOMED CT concept]
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation [ORDO Disease]
Genes related to phenotype
- Phospholipase C, gamma-2 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bronchiolitis [HPO term]
- Cataract [HPO term]
- Cellulitis [HPO term]
- Corneal erosion [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating total IgM [HPO term]
- Erythema [HPO term]
- Immune dysregulation [HPO term]
- Infantile onset [HPO term]
- Interstitial pneumonitis [HPO term]
- Recurrent infections [HPO term]
- Ulcerative colitis [HPO term]
ORDO concept(s)
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) [SNOMED CT concept]
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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