Immunodeficiency 17 (IMD17)

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Disease Ontology 12 DOID:0060018 OMIM 56 615607 OMIM Phenotypic Series 56 PS300755 MeSH 43 D007153 ICD10 via Orphanet 33 D81.2

Orphanet 58 ORPHA169082 MedGen 41 C3810107 CN184222 SNOMED-CT via HPO 68 234532001 258211005 281104002 36440009 413603009 43116000 432788009 85919009 more UMLS 71 C3810107

OMIM : ⁵⁶ 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)). (615607)

MalaCards based summary : Immunodeficiency 17, also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive, is related to cd3zeta deficiency and immunodeficiency 19. An important gene associated with Immunodeficiency 17 is CD3G (CD3g Molecule), and among its related pathways/superpathways are TCR Signaling (Qiagen) and Immune response NFAT in immune response. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are failure to thrive and abnormal intestine morphology

Disease Ontology : ¹² A severe combined immunodeficiency that has material basis in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 17: 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, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor dependent stimuli. The phenotype in some patients is reminiscent of severe combined immunodeficiency.

Clinical features from OMIM:

615607

Search NIH Clinical Center for Immunodeficiency 17

Search GEO for disease gene expression data for Immunodeficiency 17.