Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation

Preferred Label : Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation;

Symbol : IDAIL;

CISMeF acronym : ALPS5; CHAI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ctla4 haploinsufficiency with autoimmune infiltration; CHAI; Autoimmune lymphoproliferative syndrome, type V; ALPS5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cytotoxic T lymphocyte-associated 4 gene (CTLA4, 123890.0003);

Prefixed ID : #616100;

Details

Origin ID

616100;

UMLS CUI

C4015214;

Automatic exact mappings (from CISMeF team)
- CTLA4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [ORDO Disease]
- Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder) [SNOMED CT concept]
- CTLA4 Deficiency [NCIt concept]
- CTLA4 deficiency [MedDRA Preferred Term]
Genes related to phenotype
- Cytotoxic t lymphocyte-associated 4 [OMIM gene]
HPO term(s)
- Allergy [HPO term]
- Arthritis [HPO term]
- Atrophic gastritis [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bronchiectasis [HPO term]
- Crohn's disease [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased circulating total IgM [HPO term]
- Diarrhea [HPO term]
- Eczema [HPO term]
- Hepatomegaly [HPO term]
- Immunodeficiency [HPO term]
- Incomplete penetrance [HPO term]
- Lymphadenopathy [HPO term]
- Lymphocytic infiltration of the colorectal mucosa [HPO term]
- Lymphopenia [HPO term]
- Psoriasiform dermatitis [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Sepsis [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency (disorder) [SNOMED CT concept]
- CTLA4 Deficiency [NCIt concept]
- CTLA4 deficiency [MedDRA Preferred Term]

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