(Q36649222)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference

Sarah Beaussant-Cohen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Pierre S Rohrlich

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Jean Francois Nicolas

14

1 reference

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9 March 2020

Karl Balabanian

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Françoise Bachelerie

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

Christine Bellanné-Chantelot

9 March 2020

18

object named as

Christine Bellanne Chantelot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

20

Jean Donadieu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

9

Blandine Beaupain

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

2

Odile Fenneteau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

10

Pierre Bordigoni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

15

Philippe Bensaid

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

author name string

Emmanuel Plouvier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Gerard Daltroff

5

1 reference

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9 March 2020

Isabelle Plantier

6

1 reference

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9 March 2020

Alain Dupuy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Delphine Kerob

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Fanny Fouyssac

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Anne-Lise Delezoide

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Gilles Devouassoux

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Yves Bertrand

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

language of work or name

1 reference

25 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

9 March 2020

published in

1 reference

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9 March 2020

volume

7

1 reference

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9 March 2020

page(s)

71

1 reference

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https://scigraph.springernature.com/pub.10.1186/1750-1172-7-71

9 March 2020

exact match

0 references

cites work

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

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

30 September 2017

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The phenotype of human STK4 deficiency

30 September 2017

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Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

30 September 2017

1 reference

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The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

30 September 2017

1 reference

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

30 September 2017

1 reference

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Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

30 September 2017

1 reference

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Congenital neutropenia: diagnosis, molecular bases and patient management

30 September 2017

1 reference

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

30 September 2017

1 reference

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CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome.

30 September 2017

1 reference

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

30 September 2017

1 reference

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CXCR2 and CXCR4 antagonistically regulate neutrophil trafficking from murine bone marrow

30 September 2017

1 reference

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

30 September 2017

1 reference

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CXCR4 in clinical hematology

30 September 2017

1 reference

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Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry

30 September 2017

1 reference

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WHIM syndrome: congenital immune deficiency disease

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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WHIM syndrome: a defect in CXCR4 signaling

30 September 2017

1 reference

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CXCR4 mutations in WHIM syndrome: a misguided immune system?

30 September 2017

1 reference

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Safety, pharmacokinetics, and antiviral activity of AMD3100, a selective CXCR4 receptor inhibitor, in HIV-1 infection.

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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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

30 September 2017

1 reference

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Serum immunoglobulins. I. Levels in normal children and in uncomplicated childhood allergy

28 June 2018

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The effect of recombinant human granulocyte-macrophage colony-stimulating factor on neutropenia and related morbidity in chronic severe neutropenia

28 June 2018

1 reference

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Neutrophil-releasing activity of recombinant human granulocyte-macrophage colony stimulating factor in myelokathexis.

28 June 2018

1 reference

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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

28 June 2018

1 reference

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

WHIM syndrome and oral squamous cell carcinoma.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

Recurrent CXCR4 sequence variation in a girl with WHIM syndrome.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

CHRONIC IDIOPATHIC GRANULOCYTOPENIA.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

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

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-7-71

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-7-71

Myelokathexis treated with recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF)

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3585856

Myelokathexis and monocytosis in a patient with gastric cancer

4 December 2018

1 reference

12 December 2020

Myelokathexis in a mother and infant: a second case suggesting dominant inheritance

1 reference

12 December 2020

Dizygotic twin sisters with myelokathexis: mechanism of its neutropenia

1 reference

12 December 2020

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

1 reference

12 December 2020

The role of a mutation of the CXCR4 gene in WHIM syndrome

1 reference

12 December 2020

Sporadic case of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome

1 reference

12 December 2020

The WHIM syndrome shows a peculiar dysgranulopoiesis: myelokathexis

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Human papillomavirus typing of verrucae in a patient with WHIM syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Effects of molgramostim, filgrastim and lenograstim in the treatment of myelokathexis.

1 reference

12 December 2020

B-cell lymphoma in a patient with WHIM syndrome

1 reference

12 December 2020

'Myelokathexis'. Neutropenia with marrow hyperplasia

1 reference

12 December 2020

An unusual form of chronic neutropenia in a father and daughter with hypogammaglobulinaemia

1 reference

12 December 2020

Myelokathexis: chronic neutropenia with hyperplastic bone marrow and hypersegmented neutrophils in two siblings

1 reference

12 December 2020

Myelokathexis: a rare form of chronic benign granulocytopenia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

PubMed publication ID

23009155

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23009155%20AND%20SRC:MED&resulttype=core&format=json