Immunodeficiency 17 (IMD17)

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OMIM 57 615607 Disease Ontology 12 DOID:0060018 Orphanet 59 ORPHA169082 ICD10 via Orphanet 34 D81.2

MedGen 42 C3810107 CN184222 MeSH 44 D007153 SNOMED-CT via HPO 69 258211005 281104002 43116000 36440009 432788009 413603009 85919009 234532001 more UMLS 73 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)

MalaCards based summary : Immunodeficiency 17, also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive, is related to immunodeficiency 19 and granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii. An important gene associated with Immunodeficiency 17 is CD3G (CD3g Molecule), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are failure to thrive and recurrent respiratory infections

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 : ⁷⁵ 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

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.35	CD3D CD69 DDX41 PTPRC STAT1
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.32	CD3G CD40LG MALT1 STAT1
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.32	CARD9 CD3G CD40LG DDX41 MALT1 STAT1

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 17

Search GEO for disease gene expression data for Immunodeficiency 17.