|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
NK cells isolated from patients with WHIM syndrome carry gain-of-function (GOF) mutations in CXCR4 (CXCR4<sup>R334X</sup>).
|
31231387 |
2019 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Low-level Cxcr4-haploinsufficient HSC engraftment is sufficient to correct leukopenia in WHIM syndrome mice.
|
31687976 |
2019 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since CXCR4 and its ligand CXCL12 play an important role in a variety of infectious, inflammatory, autoimmune, and malignant diseases, the study of WHIM syndrome provides important insights into both the physiologic and disease roles of these molecules.
|
30565238 |
2019 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, disease allele deletion resulting in Cxcr4 haploinsufficiency was superior to disease allele repair in a mouse model of gene therapy for WHIM syndrome, allowing correction of leukopenia without recipient conditioning.
|
29715199 |
2018 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a genetic autoimmune disorder that results from gain-of-function mutations in the gene encoding chemokine receptor CXCR4.
|
29939159 |
2018 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow retention of neutrophils.
|
29177911 |
2018 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Based on these in vitro results, we conclude that CXCR4 nanobodies hold significant potential as alternative therapeutics for CXCR4-associated diseases such as WHIM syndrome.
|
28768817 |
2017 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that WHIM-mutant CXCR4 may lead to spontaneous aberrant B-cell activation, via CXCL12-mediated costimulation, impairing B-cell survival and thus possibly contributing to the WHIM syndrome defects in adaptive immunity.
|
28928741 |
2017 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Together, these studies demonstrate the role Ser-346/7 plays in arrestin recruitment and initiation of receptor desensitization and provide insight into the dysregulation of CXCR4 observed in patients with various forms of WHIM syndrome.
|
28331048 |
2017 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Alteration in Cxcr4 desensitization resulted in decrease of circulating HSPCs in five patients with WS.
|
28550161 |
2017 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss of CXCR4 receptor properties and signaling in health and diseases, focusing on the WHIM syndrome, an inherited immunodeficiency caused by mutations of the CXCR4 gene.
|
27363619 |
2016 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
HPV infection has severe effects on patients who display selective susceptibility to the virus in the context of primary immunodeficiencies, such as the warts, hypogammaglobulinemia, infections, and myelokathexis syndrome, which is caused by dysfunctions of CXCR4, the receptor for the CXCL12 chemokine.
|
26967480 |
2016 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, CXCR4 (L329fs) appears to be a de novo autosomal dominant frame-shift gain-of-function mutation that like other carboxy-terminus mutations causes WHIM syndrome.
|
27059040 |
2016 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in CXCR4 affecting receptor desensitization have been reported in the rare immunodeficiency called WHIM syndrome (WS).
|
27681431 |
2016 |
|
WHIM syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Chromothriptic cure of WHIM syndrome.
|
25662009 |
2015 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In competitive mouse bone marrow (BM) transplantation experiments, Cxcr4 haploinsufficiency was sufficient to confer a strong long-term engraftment advantage of donor BM over BM from either wild-type or WHIM syndrome model mice, suggesting a potential mechanism for the patient's cure.
|
25662009 |
2015 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We propose that FLNA interaction with ICL3 is central for endocytosis and signaling of WT and WHIM-like CXCR4 receptors.
|
25355818 |
2015 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An activating mutation in CXCR4 is responsible for a rare disease, WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), and dominant CXCR4 mutations have also been reported in Waldenstrom macroglobulinemia.
|
26199389 |
2015 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fewer patients with MYD88(L265P) and CXCR4(WHIM/FS or NS) vs MYD88(L265P)CXCR4(WT) presented with adenopathy (P < .01), further delineating differences in disease tropism based on CXCR4 status.
|
24553177 |
2014 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recently, Plerixafor has been suggested as a treatment for WHIM syndrome due to its efficacy as a CXCR4 antagonist, closing the translational research loop.
|
24111611 |
2014 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the C1013G/CXCR4 warts, hypogammaglobulinemia, infections, and myelokathexis-associated mutation in 28.2% (37/131) of patients with lymphoplasmacytic lymphoma (Waldenström macroglobulinemia [WM]), being either absent or present in only 7% of other B-cell lymphomas.
|
24711662 |
2014 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
WHIM syndrome-associated CXCR4 truncation mutants lacking the S346/347 phosphosite and the recently identified E343K WHIM mutant displayed strongly impaired phosphorylation at S324/325 and S338/339 as well as reduced CXCL12-induced receptor internalization.
|
23734232 |
2013 |
|
WHIM syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse.
|
23794067 |
2013 |
|
WHIM syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse.
|
23794067 |
2013 |
|
WHIM syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
WHIM syndrome-associated CXCR4 truncation mutants lacking the S346/347 phosphosite and the recently identified E343K WHIM mutant displayed strongly impaired phosphorylation at S324/325 and S338/339 as well as reduced CXCL12-induced receptor internalization.
|
23734232 |
2013 |