|
rs104893624
|
|
|
0.750 |
GeneticVariation |
BEFREE |
To characterize novel genetic causes of the syndrome, we recruited a pediatric patient with possible WHIM syndrome, performed CXCR4 gene sequencing and compared his clinical phenotype and CXCR4 tail amino acid sequences with other patients with WHIM syndrome carrying CXCR4 (R334X) mutations.
|
27059040 |
2016 |
|
rs104893624
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Deletion of the 238-246 motif accelerated CXCL12-induced wild-type (WT) receptor endocytosis but enabled CXCL12-mediated endocytosis and normalized signaling by the WHIM-associated receptor CXCR4(R334X).
|
25355818 |
2015 |
|
rs104893624
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Chromothriptic cure of WHIM syndrome.
|
25662009 |
2015 |
|
rs104893624
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse.
|
23794067 |
2013 |
|
rs104893624
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Accordingly, like CXCR4(R334X), the most common truncation mutation in WHIM syndrome, CXCR4(E343K) mediated approximately 2-fold increased signaling in calcium flux and chemotaxis assays relative to wild-type CXCR4; however, CXCR4(E343K) had a reduced effect on blocking normal receptor down-regulation from the cell surface.
|
22596258 |
2012 |
|
rs104893624
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Together, our data provide further evidence that CXCR4(R334X) is a gain-of-function mutation, and support clinical evaluation of AMD3100 as mechanism-based treatment in patients with WHIM syndrome.
|
21070597 |
2011 |
|
rs104893624
|
|
|
0.750 |
GeneticVariation |
BEFREE |
A nonsense mutation (C-->T) truncating the CXC chemokine receptor 4 (CXCR4) C-terminal cytoplasmic tail domain occurred at nucleotide position 1000(R334X) of the CXCR4 gene in one allele of the patient was identified, and the person was diagnosed as having WHIM syndrome.
|
19476565 |
2009 |
|
rs104893624
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Impaired recruitment of Grk6 and beta-Arrestin 2 causes delayed internalization and desensitization of a WHIM syndrome-associated CXCR4 mutant receptor.
|
19956569 |
2009 |
|
rs104893624
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.
|
12692554 |
2003 |
|
rs104893626
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We engineered WM cells to express the most common WHIM (Warts, Hypogammaglobulinemia, Infections and Myelokathexis), CXCR(S338X) mutation in WM.
|
24912431 |
2015 |
|
rs104893626
|
|
|
0.720 |
GeneticVariation |
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 |
|
rs104893626
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104893625
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1240625960
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs730880320
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs387907272
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs773862672
|
|
|
0.010 |
GeneticVariation |
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 |