IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 CausalMutation disease CLINVAR A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. 27833609 2016
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 GeneticVariation disease CLINVAR Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis. 26123418 2015
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 CausalMutation disease CLINVAR Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. 24759676 2014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 CausalMutation disease CLINVAR 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
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 GeneticVariation disease CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875 2011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 CausalMutation disease CLINVAR IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. 17827065 2007
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 CausalMutation disease CLINVAR Omenn syndrome in an infant with IL7RA gene mutation. 16492442 2006
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 CausalMutation disease CLINVAR Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 15661025 2005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 GeneticVariation disease UNIPROT A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. 11023514 2000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 CausalMutation disease CLINVAR Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 9843216 1998
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 GeneticVariation disease UNIPROT Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 9843216 1998
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 Biomarker disease CTD_human
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
0.700 GermlineCausalMutation disease ORPHANET
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 Biomarker disease BEFREE New anti-IL-7Rα monoclonal antibodies show efficacy against T cell acute lymphoblastic leukemia in pre-clinical models. 31439943 2020
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 Biomarker disease BEFREE Moreover, we demonstrate that IL-7R expression is an early functional biomarker of T-ALL cells with LIC potential and report that impaired IL-7R signaling hampers engraftment and progression of patient-derived T-ALL xenografts. 31530562 2019
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 Biomarker disease BEFREE Our studies serve as a stepping stone for the development of novel targeted therapies in T-ALL and other diseases where IL-7Rα has a pathological role. 30850736 2019
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 GeneticVariation disease BEFREE Mutations in the interleukin-7 receptor (IL7R) or the Janus kinase 3 (JAK3) kinase occur frequently in T-cell acute lymphoblastic leukemia (T-ALL) and both are able to drive cellular transformation and the development of T-ALL in mouse models. 28852199 2018
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 Biomarker disease BEFREE Our analyses showed that IL7R-JAK genetic lesions did not confer adverse prognosis in T-cell acute lymphoblastic leukemia cases enrolled in the UK ALL2003 trial. 26206799 2015
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 Biomarker disease BEFREE Thus, targeting leukaemogenic IL7R homodimerization with NAC offers a potentially effective and feasible therapeutic strategy that warrants testing in patients with T-ALL. 25256574 2015
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 GeneticVariation disease BEFREE PTEN and NOTCH1 mutations were almost mutually exclusive, while IL7R and WT1 mutations were rare in pediatric T-ALL and PTPN11 and AKT1 mutations were infrequent in adult T-ALL. 26341754 2015
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 Biomarker disease BEFREE To that end, we sequenced the 50-base pair interval in exon 6 of the IL7R of DNA obtained from bone marrow samples of 35 randomly selected adult patients with T-ALL. 24678068 2014
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 Biomarker disease BEFREE Overall, our findings indicate that IL7R mutational activation is involved in human T-cell leukemogenesis, paving the way for therapeutic targeting of IL-7R-mediated signaling in T-ALL. 21892159 2011
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 Biomarker disease CTD_human Overall, our findings indicate that IL7R mutational activation is involved in human T-cell leukemogenesis, paving the way for therapeutic targeting of IL-7R-mediated signaling in T-ALL. 21892159 2011
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.590 CausalMutation disease CGI
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.530 GeneticVariation disease BEFREE The OS baby harbored a homozygous p.C118Y mutation in IL7R. 24759676 2014