|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
In this study, we generated novel X-SCID mouse strains with small insertion and deletion (InDel) mutations in Il2rg by using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9.
|
31801915 |
2019 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Pigs with X-linked severe combined immunodeficiency (X-SCID) caused by a mutation of the interleukin-2 receptor gamma chain gene (IL2RG) are of value for a wide range of studies.
|
29162766 |
2018 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
X-linked severe combined immunodeficiency (SCID-X1) is caused by mutations in the interleukin-2 receptor γ chain gene (IL2RG), and it is characterized by profound defects in T, B, and natural killer (NK) cell functions.
|
29707600 |
2018 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
All reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664C>T (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of life, despite the presence of nearly normal NK and T cell numbers.
|
29948574 |
2018 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Definitive diagnosis of X-linked severe combined immunodeficiency was established by DNA analysis of the interleukin 2 receptor gamma chain gene.
|
29620683 |
2018 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Here, we show that adeno-associated virus (AAV) gene editing vectors can insert a partial Il2rg cDNA at the endogenous Il2rg locus in X-SCID murine bone marrow cells and that these ex vivo-edited cells repopulate transplant recipients and produce CD4<sup>+</sup> and CD8<sup>+</sup> T cells.
|
29606506 |
2018 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Most of the SCID forms are autosomal recessive with the exception of IL2RG defects that cause an X-linked SCID.
|
28552805 |
2017 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
The novel mutation in IL2RG gene identified in our study may help the early diagnosis of atypical X-SCID.
|
27566612 |
2017 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.
|
28747913 |
2017 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
To model X-SCID in vitro, we generated a mouse embryonic stem cell (ESC) line in which a disease-causing human IL2RG gene variant replaces the endogenous Il2rg locus.
|
28963568 |
2017 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
This same approach could be used to correct IL2RG mutations in X-linked severe combined immunodeficiency patient-derived induced PSCs (iPSCs), to prevent graft versus host disease in regenerative medicine applications, or to edit other silent genes.
|
26444081 |
2016 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1.
|
25869287 |
2015 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
In couples with an X-SCID reproductive history, prenatal gene mutation analysis of IL2Rγ can effectively prevent the birth of children with X-SCID and carrier detection for suspected females.
|
26125817 |
2015 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Successful treatment for West syndrome with severe combined immunodeficiency.
|
24534054 |
2015 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.
|
26547715 |
2015 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
X-linked severe combined immunodeficiency (X-SCID) leads to a T(-) NK(-) B(+) immunophenotype and is caused by mutations in the gene encoding the IL-2 receptor γ-chain (IL2RG).
|
25042067 |
2014 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
We demonstrate the therapeutic potential of our strategy by targeting a corrective complementary DNA into the IL2RG gene of HSCs from healthy donors and a subject with X-linked severe combined immunodeficiency (SCID-X1).
|
24870228 |
2014 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Mutations in the common gamma chain (γc, CD132, encoded by the IL2RG gene) can lead to B(+)T(-)NK(-) X-linked severe combined immunodeficiency, as a consequence of unresponsiveness to γc-cytokines such as interleukins-2, -7 and -15.
|
23403317 |
2013 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Gene therapy for SCID-X1 using conventional retroviral (RV) vectors carrying the γc gene results in the successful reconstitution of T cell immunity.
|
23990961 |
2013 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
|
23683512 |
2013 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
Biomarker
|
group |
BEFREE |
The clinical vector was high titer; transduced 68-70% normal human CD34(+) cells, as determined by colony-forming unit assays and by xenotransplantation in immunodeficient NOD.CB17-Prkdc(scid)/J (nonobese diabetic/severe combined immunodeficiency (NOD/SCID)) and NOD.Cg-Prkdc(scid) Il2rg(tm1Wjl)/SzJ (NOD/SCID gamma (NSG))) mice; and resulted in the production of T cells in vitro from human SCID-X1 CD34(+) cells.
|
22551777 |
2012 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient.
|
22460439 |
2012 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
CausalMutation
|
group |
CLINVAR |
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
|
22039266 |
2011 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Along with IL-4, IL-7, IL-9, IL-15, and IL-21, IL-2 shares the common cytokine receptor γ chain, γ(c), which is mutated in humans with X-linked severe combined immunodeficiency.
|
21889323 |
2011 |
|
X-Linked Combined Immunodeficiency Diseases
|
0.800 |
GeneticVariation
|
group |
BEFREE |
X-linked severe combined immunodeficiency (SCID-X1) is caused by mutations in the common cytokine receptor γ chain.
|
21865537 |
2011 |