|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency.
|
25443657 |
2015 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
X-linked severe combined immunodeficiency (X-SCID) leads to a T(-) NK(-) B(+) immunophenotype and is caused by mutations in the gene encoding the IL-2 receptor γ-chain (IL2RG).
|
25042067 |
2014 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with X-linked severe combined immunodeficiency (SCID-X1) were successfully cured following gene therapy with a gamma-retroviral vector (gRV) expressing the common gamma chain of the interleukin-2 receptor (IL2RG).
|
22551777 |
2012 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Along with IL-4, IL-7, IL-9, IL-15, and IL-21, IL-2 shares the common cytokine receptor γ chain, γ(c), which is mutated in humans with X-linked severe combined immunodeficiency.
|
21889323 |
2011 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In conclusion, we have identified the novel mutation in the IL-2 receptor gamma chain gene, which is associated with X-SCID.
|
19398866 |
2009 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Finally, we describe the construction of an insulated, SIN lentiviral vector encoding the human interleukin 2 receptor common gamma chain (IL2RG) gene and the efficient derivation of cloned producer cells that generate supernatants with titers greater than 5 x 10(7) TU/mL and that are suitable for use in a clinical trial for X-linked severe combined immunodeficiency (SCID-X1).
|
19286997 |
2009 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Previously, several individuals with X-linked SCID (SCID-X1) were treated by gene therapy to restore the missing IL-2 receptor gamma (IL2RG) gene to CD34+ BM precursor cells using gammaretroviral vectors.
|
18688285 |
2008 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Retroviral gene therapy can restore immunity to infants with X-linked severe combined immunodeficiency (XSCID) caused by mutations in the IL2RG gene encoding the common gamma chain (gammac) of receptors for interleukins 2 (IL-2), -4, -7, -9, -15, and -21.
|
17369490 |
2007 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15, and IL-21.
|
14966353 |
2004 |
|
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 |
Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model.
|
11319919 |
2001 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
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 |
A novel mutant gammac chain from a patient with typical phenotype of X-linked severe combined immunodeficiency (SCID) has partial signalling function for mediating IL-2 and IL-4 receptor action.
|
9933465 |
1999 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The phenotypic differences between X-SCID and IL-2-deficient SCID suggests that the IL-2Rgamma chain might be a component of other receptors needed for thymic development, B cell class-switching, and NK development.
|
9801259 |
1998 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
X-linked severe combined immunodeficiency (XSCID) constitutes a disorder of the immune system caused by mutations in the gene encoding the common gamma chain (gammac), a subunit of the IL-2, IL-4, IL-7, IL-9 and IL-15 receptors, which are necessary for lymphocyte development and function.
|
9921912 |
1998 |
|
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 |
Both canine and human XSCID are caused by defects in the common gamma chain, gammac, of receptors for interleukin-2 and other cytokines.
|
9716584 |
1998 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The diagnosis of X-linked SCID is usually relatively simple due to the distinctive immunological presentation; IL-2Rgamma-deficient patients typically lacking mature T lymphocytes (T-B+).
|
9399950 |
1997 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The gamma(c) subunit can be employed in receptor complexes for IL-2, -4, -7, -9, and -15, and the multiple signaling defects that would result from a defective gamma(c) chain in these receptors are proposed to cause the severe phenotype of X-SCID patients.
|
9005984 |
1997 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The fact that the phenotype and clinical manifestations in XSCID are more severe than the abnormalities found in humans or mice deficient in IL-2 led to the speculation and subsequent confirmation that the IL-2 receptor is not the only receptor to contain the gamma chain.
|
8712778 |
1996 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our results emphasize the broad molecular heterogeneity of X-linked SCID and suggest the presence of mutational "hot spots" within the IL-2R gamma-chain gene.
|
8956936 |
1996 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus, retroviral-mediated transduction of normal gamma-c can reconstitute downstream signalling through the IL-2R in X-SCID cell lines, suggesting that gene therapy may be a treatment for this disease.
|
8605323 |
1996 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutation of the gamma c chain common to interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15 receptors has been shown to be responsible for the X chromosome-linked severe combined immune deficiency (SCIDX1).
|
8781427 |
1996 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.100 |
GeneticVariation
|
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 |
JAK3-deficient patients present with a clinical phenotype virtually indistinguishable from boys affected by X-linked SCID, a disease caused by genetic defects of the common gamma chain (gamma c) that is a shared component of the receptors for IL-2, IL-4, IL-7, IL-9, and IL-15.
|
8676091 |
1996 |