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GTR Home > Conditions/Phenotypes > Combined immunodeficiency due to CD3gamma deficiency

Combined immunodeficiency due to CD3gamma deficiency

Synonyms
CD3-GAMMA DEFICIENCY; Immunodeficiency 17; Immunodeficiency 17, CD3 gamma deficient; SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-17 (IMD17) 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)). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD3-GAMMA, CD3GAMMA, IMD17, T3G, CD3G
    Summary: CD3 gamma subunit of T-cell receptor complex

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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