|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our laboratory has identified an X-linked severe combined immunodeficiency (XSCID) in dogs that is the result of mutations in the common gamma chain (gammac) subunit of the interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15, and IL-21 receptors.
|
12857971 |
2003 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Canine X-linked severe combined immunodeficiency (XSCID) is due to mutations in the common gamma (gammac) subunit of the IL-2, IL-4, IL-7, IL-9 and IL-15 receptors and has a similar clinical phenotype to human XSCID.
|
10889304 |
2000 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
This has established a major role for IL-7-receptor-dependent signaling in T cell development in humans and probably explains the diminished T cell numbers seen in patients with X-linked SCID or SCID that results from Jak3-deficiency.
|
10899029 |
2000 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The result shows that IL-4- and/or IL-7-induced signaling through the gammac chain is critical for T-cell development and plays an important role in the development of the X-SCID phenotype.
|
9885222 |
1999 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our laboratory has identified and characterized an X-linked severe combined immunodeficiency (XSCID) in dogs that is due to mutations in the common gamma (gamma c) subunit of the interleukin-2 (IL2), IL4, IL7, IL9, and IL15 receptors.
|
9479568 |
1998 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Finally, these studies are consistent with the hypothesis that the molecular pathogenesis of X-SCID is due primarily to gamma(c)-mediated defects in the IL-7/IL-7R system.
|
9005984 |
1997 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
X-linked severe combined immunodeficiency (XSCID) is a lethal disease caused by a defect in the gene encoding the common gamma chain (gamma-c) of the receptor for interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15.
|
8605322 |
1996 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Males with X-linked severe combined immunodeficiency (XSCID) have defects in the common cytokine receptor gamma chain (gamma c) gene that encodes a shared, essential component of the receptors of interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15.
|
7481768 |
1995 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The IL-2R gamma chain is a common component of the IL-2, IL-4, and IL-7 receptor systems, which may explain the severe immunophenotype in SCIDX1.
|
7937790 |
1994 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The observation that IL-2R gamma is a functional component of the IL-4 receptor, together with the finding that IL-2R gamma associates with the IL-7 receptor, begins to elucidate why deficiency of this common gamma chain (gamma c) has a profound effect on lymphoid function and development, as seen in X-linked severe combined immunodeficiency.
|
8266078 |
1993 |