Immunodeficiency 16

Preferred Label : Immunodeficiency 16;

Symbol : IMD16;

CISMeF acronym : IMD16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ox40 deficiency;

Description : Immunodeficiency-16 is an autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency. (Byun et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tumor necrosis factor receptor superfamily, member 4 gene (TNFRSF4, 600315.0001);

Neoplasia : Kaposi sarcoma, HHV-8-associated;

Prefixed ID : #615593;

Details

Origin ID

615593;

UMLS CUI

C3810053;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to OX40 deficiency [ORDO Disease]
- immunodeficiency 16 [DO Concept]
DO Cross reference
- immunodeficiency 16 [DO Concept]
Genes related to phenotype
- Tumor necrosis factor receptor superfamily, member 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coombs-positive hemolytic anemia [HPO term]
- Immunodeficiency [HPO term]
- Juvenile onset [HPO term]
- Kaposi's sarcoma [HPO term]
- Pancytopenia [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to OX40 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 16 [DO Concept]

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