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IMD17
MCID: IMM184
MIFTS: 47
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Immunodeficiency 17 (IMD17)
Categories:
Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Immunodeficiency 17:
Characteristics:Orphanet epidemiological data:58
combined immunodeficiency due to cd3gamma deficiency
Inheritance: Autosomal recessive; OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
highly variable severity some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic t-cell lymphopenia is more severe early in life HPO:31
immunodeficiency 17:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases Gastrointestinal diseases
ICD10:
33
Orphanet: 58
Rare immunological diseases |
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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 20-May-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 : 72 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. |
Human phenotypes related to Immunodeficiency 17:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:615607 (Updated 20-May-2021)GenomeRNAi Phenotypes related to Immunodeficiency 17 according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Immunodeficiency 17:46
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MalaCards organs/tissues related to Immunodeficiency 17:40
T Cells,
Nk Cells,
B Cells,
Thymus,
Pituitary
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Articles related to Immunodeficiency 17:(show all 12)
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Genes related to Immunodeficiency 17 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Immunodeficiency 17:6 (show top 50) (show all 58)
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Search
GEO
for disease gene expression data for Immunodeficiency 17.
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Pathways related to Immunodeficiency 17 according to GeneCards Suite gene sharing:(show all 33)
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Cellular components related to Immunodeficiency 17 according to GeneCards Suite gene sharing:
Biological processes related to Immunodeficiency 17 according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Immunodeficiency 17 according to GeneCards Suite gene sharing:
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