Immunodeficiency 52

Preferred Label : Immunodeficiency 52;

Symbol : IMD52;

CISMeF acronym : IMD52;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the linker for activation of T cells gene (LAT, 602354.0001);

Prefixed ID : #617514;

Details

Origin ID

617514;

UMLS CUI

C4479588;

Automatic exact mappings (from CISMeF team)
- LAT wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Severe combined immunodeficiency due to LAT deficiency [ORDO Disease]
- Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) [SNOMED CT concept]
- immunodeficiency 52 [DO Concept]
DO Cross reference
- immunodeficiency 52 [DO Concept]
Genes related to phenotype
- Linker for activation of t cells [OMIM gene]
HPO term(s)
- Autoimmune thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic lung disease [HPO term]
- Coombs-positive hemolytic anemia [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased proportion of CD4-positive T cells [HPO term]
- Failure to thrive [HPO term]
- Immune dysregulation [HPO term]
- Immunodeficiency [HPO term]
- Increased proportion of gamma-delta T cells [HPO term]
- Lymphadenopathy [HPO term]
- Lymphopenia [HPO term]
- Persistent CMV viremia [HPO term]
- Persistent EBV viremia [HPO term]
- Recurrent infections [HPO term]
- Recurrent pneumonia [HPO term]
- Splenomegaly [HPO term]
Not associated HPO term(s)
- Abnormal natural killer cell morphology [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to LAT deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) [SNOMED CT concept]
- immunodeficiency 52 [DO Concept]

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