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 |
|
|
|
Omenn Syndrome
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
The OS baby harbored a homozygous p.C118Y mutation in IL7R.
|
24759676 |
2014 |