IMD17
MCID: IMM184
MIFTS: 46
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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:56
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
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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. |
Human phenotypes related to Immunodeficiency 17:31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615607MGI Mouse Phenotypes related to Immunodeficiency 17:45
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Interventional clinical trials:
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MalaCards organs/tissues related to Immunodeficiency 17:40
T Cells,
B Cells,
Nk Cells,
Thymus,
Pituitary
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Articles related to Immunodeficiency 17:(show all 11)
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ClinVar genetic disease variations for Immunodeficiency 17:6 (show all 47)
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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 27)
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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:
Molecular functions related to Immunodeficiency 17 according to GeneCards Suite gene sharing:
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