Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 GeneticVariation group BEFREE The cytokine interleukin-21 (IL-21) is closely related to IL-2 and IL-15, and their receptors all share the common cytokine receptor gamma chain, gammac, which is mutated in humans with X-linked severe combined immunodeficiency disease (XSCID). 12446913 2002
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 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 gammac gene transfer in the presence of stem cell factor, FLT-3L, interleukin-7 (IL-7), IL-1, and IL-15 cytokines restores T-cell differentiation from gammac(-) X-linked severe combined immunodeficiency hematopoietic progenitor cells in murine fetal thymic organ cultures. 9834214 1998
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-SCID, the most common form of human SCID, is due to mutations in the common gamma chain gene (gamma-c) that encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15. 8605323 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
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 Mutations in the common gamma-chain (gamma c), which is part of several cytokine receptors including those for interleukin (IL)-2, IL-4, IL-7, IL-9 and IL-15, are responsible for X-linked SCID, which is usually associated with a lack of circulating T cells and the presence of B lymphocytes (T- B+ SCID). 7659163 1995
X-Linked Combined Immunodeficiency Diseases
0.100 Biomarker group BEFREE In this study, we have used X-linked severe combined immunodeficiency (X-SCID) as a naturally occurring gamma c-chain gene disruption model to examine the role of the gamma c-chain in human B-cell responses to IL-2, IL-4, IL-13, and IL-15. 7803808 1995
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 AlteredExpression group BEFREE Furthermore, a significant reduction and delay of IL-15 internalization by B lymphoblasts from XSCID patients was observed when compared with that of normal control B-LCLs. 7632950 1995