Immunodeficiency 17 (IMD17)

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Disease Ontology 12 DOID:0060018 DOID:0111973 OMIM® 57 615607 OMIM Phenotypic Series 57 PS300755 MeSH 44 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® : ⁵⁷ 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) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 17, also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive, is related to lymphopenia and severe combined immunodeficiency. An important gene associated with Immunodeficiency 17 is CD3G (CD3g Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are failure to thrive and abnormal intestine morphology

Disease Ontology : ¹² A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has material basis in homozygous or compound heterozygous mutation in CD3G on chromosome 11q23.3.

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 (Updated 05-Mar-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased viability	GR00342-S-1	9.35	ITK ZAP70
2	Increased viability	GR00342-S-2	9.35	ITK ZAP70
3	Increased viability	GR00342-S-3	9.35	ITK
4	Reduced mammosphere formation	GR00396-S	9.02	CD3D CD69 ITK LCK ZAP70

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 17

Search GEO for disease gene expression data for Immunodeficiency 17.