Immunodeficiency 13

Preferred Label : Immunodeficiency 13;

Symbol : IMD13;

CISMeF acronym : ICL; IMD13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ICL; Idiopathic cd4 lymphopenia;

Description : Idiopathic CD4 lymphopenia (ICL) is a rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T cells) in the absence of HIV infection or other known causes of immunodeficiency. ICL predisposes to infections and malignancy (summary by Gorska and Alam, 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the unc-119 lipid binding chaperone gene (UNC119, 604011.0002);

Prefixed ID : #615518;

Details

Origin ID

615518;

UMLS CUI

C3809768;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 13 [DO Concept]
Currated CISMeF NLP mapping
- Idiopathic CD4 lymphocytopenia [ORDO Disease]
- Idiopathic CD4 lymphocytopenia [ICD-11 More detail]
- Idiopathic CD4 lymphocytopenia (disorder) [SNOMED CT concept]
- Idiopathic CD4-Positive T-Lymphocytopenia [NCIt concept]
- T-Lymphocytopenia, idiopathic CD4-Positive [MeSH concept]
- T-lymphocytopenia, idiopathic CD4-positive [MeSH Descriptor]
- idiopathic CD4 positive T lymphocytopenia [Disease (Nov.)]
- idiopathic CD4-positive T-lymphocytopenia [DO Concept]
DO Cross reference
- immunodeficiency 13 [DO Concept]
Genes related to phenotype
- Unc119 lipid-binding chaperone [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Bronchiectasis [HPO term]
- Bronchiolitis obliterans organizing pneumonia [HPO term]
- Decreased CD4:CD8 ratio [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Immunodeficiency [HPO term]
- Lymphopenia [HPO term]
- Nasal polyposis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent shingles [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- Idiopathic CD4 lymphocytopenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 13 [DO Concept]

Keyword's position in hierarchy(ies) :

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