Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
A perspective on IL-7Rα deficient T-B+NK+ severe combined immunodeficiency.
|
25191848 |
2015 |
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
0.500 |
Biomarker
|
disease |
BEFREE |
Deletion of IL-7Ra in humans has, for some time, been known to cause severe combined immunodeficiency.
|
22425228 |
2012 |
Severe Combined Immunodeficiency
|
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 |
Severe Combined Immunodeficiency
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Severe Combined Immunodeficiency
|
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 |