Immunodeficiency 17

Preferred Label : Immunodeficiency 17;

Symbol : IMD17;

CISMeF acronym : IMD17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive; Cd3-gamma deficiency;

Description : Immunodeficiency-17 is an autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, particularly of cytotoxic CD8 (see 186910)-positive cells, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor (TCR)-dependent stimuli. B cells, natural killer (NK) cells, and immunoglobulins are usually normal. Although thymic output of functional naive T cells early in life is decreased, polyclonal expansion of functional memory T cells is substantial. The phenotype in some patients is reminiscent of severe combined immunodeficiency (SCID) (summary by Timon et al. (1993) and Recio et al. (2007)).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD3 antigen, gamma subunit gene (CD3G, 186740.0001);

Prefixed ID : #615607;

Details

Origin ID

615607;

UMLS CUI

C3810107;

Automatic exact mappings (from CISMeF team)
- CD3gamma deficiency [DO Concept]
- Combined immunodeficiency due to CD3gamma deficiency [ORDO Disease]
- immunodeficiency 17 [DO Concept]
DO Cross reference
- immunodeficiency 17 [DO Concept]
Genes related to phenotype
- Cd3 antigen, gamma subunit [OMIM gene]
HPO term(s)
- Abnormal intestine morphology [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased proportion of CD8-positive T cells [HPO term]
- Eczema [HPO term]
- Failure to thrive [HPO term]
- Immunodeficiency [HPO term]
- Recurrent gastroenteritis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Abnormal B cell morphology [HPO term]
- Abnormal T cell morphology [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to CD3gamma deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 17 [DO Concept]

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