(Q37653020)

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Genetics on a WHIM.

scientific article published on 20 September 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Genetics on a WHIM. (English)

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Razelle Kurzrock

2

object named as

Razelle Kurzrock

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

author name string

Omar Al Ustwani

1

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Meir Wetzler

3

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

language of work or name

0 references

publication date

20 September 2013

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

British Journal of Haematology

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

164

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

15-23

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Complete genome sequence of a tenth human polyomavirus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Dual roles for Rac2 in neutrophil motility and active retention in zebrafish hematopoietic tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Live imaging of neutrophil motility in a zebrafish model of WHIM syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

CXCR2 and CXCR4 antagonistically regulate neutrophil trafficking from murine bone marrow

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

A quadrivalent HPV vaccine induces humoral and cellular immune responses in WHIM immunodeficiency syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Impaired recruitment of Grk6 and beta-Arrestin 2 causes delayed internalization and desensitization of a WHIM syndrome-associated CXCR4 mutant receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

WHIM syndrome: congenital immune deficiency disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Small neutralizing molecules to inhibit actions of the chemokine CXCL12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Regulation of CXCR4 signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

WHIM syndrome: a defect in CXCR4 signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

CXCR4 mutations in WHIM syndrome: a misguided immune system?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Congenital neutropenia: advances in diagnosis and treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

CXCR4-SDF-1 signalling, locomotion, chemotaxis and adhesion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

WHIM syndrome: a genetic disorder of leukocyte trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

beta-arrestin differentially regulates the chemokine receptor CXCR4-mediated signaling and receptor internalization, and this implicates multiple interaction sites between beta-arrestin and CXCR4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Deficiency of the hematopoietic cell-specific Rho family GTPase Rac2 is characterized by abnormalities in neutrophil function and host defense

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Impaired B-lymphopoiesis, myelopoiesis, and derailed cerebellar neuron migration in CXCR4- and SDF-1-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Function of the chemokine receptor CXCR4 in haematopoiesis and in cerebellar development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

The chemokine receptor CXCR4 is essential for vascularization of the gastrointestinal tract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Clinical features of myelokathexis and treatment with hematopoietic cytokines: a case report of two patients and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Defects of B-cell lymphopoiesis and bone-marrow myelopoiesis in mice lacking the CXC chemokine PBSF/SDF-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

HIV-1 Entry Cofactor: Functional cDNA Cloning of a Seven-Transmembrane, G Protein-Coupled Receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Clinical and biologic effects of granulocyte colony stimulating factor in the treatment of myelokathexis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

23 August 2017

Generalized verrucosis: a review of the associated diseases, evaluation, and treatments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

6 September 2017

Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

6 September 2017

Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

6 September 2017

WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

14 September 2017

A case of immunodeficiency characterized by neutropenia, hypogammaglobulinaemia, recurrent infections and warts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

14 September 2017

Cloning and characterization of human chemokine receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

28 September 2017

A report of WHIM syndrome (myelokathexis) - clinical features and bone marrow morphology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

25 June 2018

Safety and preliminary efficacy of plerixafor (Mozobil) in combination with chemotherapy and G-CSF: an open-label, multicenter, exploratory trial in patients with multiple myeloma and non-Hodgkin's lymphoma undergoing stem cell mobilization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

25 June 2018

Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

WHIM syndrome and oral squamous cell carcinoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

Phase III prospective randomized double-blind placebo-controlled trial of plerixafor plus granulocyte colony-stimulating factor compared with placebo plus granulocyte colony-stimulating factor for autologous stem-cell mobilization and transplantatio

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

A case of WHIM syndrome associated with diabetes and hypothyroidism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

Recurrent CXCR4 sequence variation in a girl with WHIM syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

Epstein-Barr virus-associated T-lymphoproliferative disease with hemophagocytic syndrome, followed by fatal intestinal B lymphoma in a young adult female with WHIM syndrome. Warts, hypogammaglobulinemia, infections, and myelokathexis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

The earliest stages of B cell development require a chemokine stromal cell-derived factor/pre-B cell growth-stimulating factor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961560

1 September 2018

WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12574

21 January 2018

Sequential desensitization of CXCR4 and S1P5 controls natural killer cell trafficking

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12574

21 January 2018

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12574

21 January 2018

Proper desensitization of CXCR4 is required for lymphocyte development and peripheral compartmentalization in mice

1 reference

https://api.crossref.org/works/10.1111%2FBJH.12574

21 January 2018

B-cell lymphoma in a patient with WHIM syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Production of interleukin-1 alpha, interleukin-1 beta and tumor necrosis factor by human mononuclear cells stimulated with granulocyte-macrophage colony-stimulating factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration]

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myelokathexis associated with multiple congenital malformations: immunological study on phagocytic cells and lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myelokathexis and monocytosis in a patient with gastric cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dizygotic twin sisters with myelokathexis: mechanism of its neutropenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A pivotal role for CXCL12 signaling in HPV-mediated transformation of keratinocytes: clues to understanding HPV-pathogenesis in WHIM syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A WHIM-sical zebrafish.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of human chemokine receptors CXCR4. Role of phosphorylation in desensitization and internalization

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Picture in clinical hematology no. 40: Infant case of neutropenia due to WHIM syndrome(myelokathexis)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"MYELOKATHEXIS"--A NEW FORM OF CHRONIC GRANULOCYTOPENIA. REPORT OF A CASE

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human papillomavirus typing of verrucae in a patient with WHIM syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myelokathexis: normalization of neutrophil counts and morphology by GM-CSF

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A myelokathexis-like variant of myelodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The WHIM syndrome shows a peculiar dysgranulopoiesis: myelokathexis

1 reference

https://pubmed.ncbi.nlm.nih.gov/24111611

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/BJH.12574

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

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