Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 Biomarker disease BEFREE Our results suggest that IL7R is essential for T cell development but dispensable for the development of certain human NK cells B cells and suggest that WES can be a useful tool for precise genetic diagnosis of SCID following newborn screening in the index patient without the need to screen other members of the whole family. 29551298 2020
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 Biomarker disease BEFREE IL-7 receptor α (IL-7Rα) deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive and high risk of mortality unless treated. 31736942 2019
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 Biomarker disease BEFREE We describe a case of severe hypercalcemia during foscarnet treatment in an infant with IL-7 Rα deficient severe combined immunodeficiency, resolved after treatment cessation. 27820135 2017
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 GeneticVariation disease BEFREE Severe combined immunodeficiency (SCID) is a potentially fatal primary immunodeficiency (PID) that is caused by mutations in genes such as IL2RG, JAK3, IL7RA, RAG1, RAG2, and ADA. 28552805 2017
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 GeneticVariation disease BEFREE We show that heterozygous IL7R exon deletions are common in T-B+NK+ SCID and are detectable by WES. 27807805 2017
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 Biomarker disease BEFREE A perspective on IL-7Rα deficient T-B+NK+ severe combined immunodeficiency. 25191848 2015
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 GeneticVariation disease BEFREE Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. 25046553 2014
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 Biomarker disease BEFREE Deletion of IL-7Ra in humans has, for some time, been known to cause severe combined immunodeficiency. 22425228 2012
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 GeneticVariation disease BEFREE Here we report a case of SCID due to heterozygous mutations of the IL7R gene encoding IL-7Ralpha. 17827065 2007
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 GeneticVariation disease BEFREE Flow cytometric analysis of peripheral blood lymphocytes from both girls demonstrated a T-B+NK+ phenotype consistent with interleukin 7 receptor alpha-chain-mutation SCID. 17201233 2006
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 GeneticVariation disease BEFREE Analysis of gene-targeted mice and patients with severe combined immunodeficiency due to mutations of the alpha chain of the interleukin-7 receptor (IL-7Ralpha) has shown important differences between mice and humans in the role played by IL-7 in lymphoid development. 15661025 2005
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 GeneticVariation disease BEFREE Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency. 15615257 2004
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 Biomarker disease BEFREE Mutations in any of eight known genes: IL2RG, ARTEMIS, RAG1, RAG2, ADA, CD45, JAK3, and IL7R cause SCID. 14726805 2004
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 GeneticVariation disease BEFREE A P132S mutation in the IL-7R alpha was identified in 3 patients with severe combined immunodeficiency (SCID) within an extensively consanguineous family. 11023514 2000
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 AlteredExpression disease BEFREE We now demonstrate that defective IL7R expression causes T(-)B(+)NK(+) SCID, indicating that the T-cell, but not the NK-cell, defect in XSCID results from inactivation of IL-7Ralpha signalling. 9843216 1998
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 Biomarker disease HPO
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 CausalMutation disease CLINVAR
Entrez Id: 3575
Gene Symbol: IL7R
IL7R
0.500 GeneticVariation disease CLINVAR