Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome? (Q33621893)

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20 March 2020

case report

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title

Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome? (English)

1 reference

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20 March 2020

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Giusella M F Moscato

1

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20 March 2020

Erica Giacobbi

2

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20 March 2020

Lucia Anemona

3

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20 March 2020

Gigliola Di Matteo

5

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20 March 2020

Alessandro Mauriello

7

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20 March 2020

Viviana Moschese

8

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20 March 2020

publication date

2 May 2017

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20 March 2020

published in

Frontiers in pediatrics

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20 March 2020

volume

5

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20 March 2020

page(s)

95

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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

20 March 2020

cites work

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B-cell subpopulations in children: National reference values

21 June 2018

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Diagnostics of primary immunodeficiency diseases: a sequencing capture approach

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Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits

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Role of G protein-coupled receptor kinases in cell migration

21 June 2018

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Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

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G protein-coupled receptor kinase-3-deficient mice exhibit WHIM syndrome features and attenuated inflammatory responses

21 June 2018

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

21 June 2018

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The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

21 June 2018

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

21 June 2018

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Site-specific phosphorylation of CXCR4 is dynamically regulated by multiple kinases and results in differential modulation of CXCR4 signaling

21 June 2018

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WHIM syndrome: congenital immune deficiency disease

21 June 2018

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

21 June 2018

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Regulation of CXCR4 signaling

21 June 2018

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GRKs and beta-arrestins: roles in receptor silencing, trafficking and signaling

21 June 2018

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CXCR4 mutations in WHIM syndrome: a misguided immune system?

21 June 2018

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

21 June 2018

1 reference

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

21 January 2018

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Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

21 January 2018

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Paediatric reference values for the peripheral T cell compartment.

21 January 2018

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B cell subsets in healthy children: reference values for evaluation of B cell maturation process in peripheral blood.

21 January 2018

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

21 January 2018

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Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/28512628

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/28512628

12 December 2020

Myelokathexis and monocytosis in a patient with gastric cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/28512628

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

https://pubmed.ncbi.nlm.nih.gov/28512628

12 December 2020

The WHIM syndrome shows a peculiar dysgranulopoiesis: myelokathexis

1 reference

https://pubmed.ncbi.nlm.nih.gov/28512628

12 December 2020

Identifiers

DOI

10.3389/FPED.2017.00095

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28512628%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

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20 March 2020

PubMed publication ID

28512628

1 reference