CXCR4 mutations in WHIM syndrome: a misguided immune system? (Q36015049)

11 August 2017

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title

CXCR4 mutations in WHIM syndrome: a misguided immune system? (English)

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11 August 2017

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George A Diaz

1

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11 August 2017

1 February 2005

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11 August 2017

Immunological Reviews

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11 August 2017

203

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11 August 2017

235-243

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

11 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

A variant of myelokathexis with hypogammaglobulinemia: lymphocytes as well as neutrophils may reverse in response to infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

HIV coreceptor downregulation as antiviral principle: SDF-1alpha-dependent internalization of the chemokine receptor CXCR4 contributes to inhibition of HIV replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Phorbol esters and SDF-1 induce rapid endocytosis and down modulation of the chemokine receptor CXCR4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Role of the intracellular domains of CXCR4 in SDF-1-mediated signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Role of the CXCR4/SDF-1 chemokine axis in circulating neutrophil homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

B lymphocyte chemotaxis regulated in association with microanatomic localization, differentiation state, and B cell receptor engagement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

A coordinated change in chemokine responsiveness guides plasma cell movements

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

21 January 2018

Chemokines and disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Evolutionary genetics: CCR5 mutation and plague protection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Trafficking of the HIV coreceptor CXCR4. Role of arrestins and identification of residues in the c-terminal tail that mediate receptor internalization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Beta-arrestin2 is critically involved in CXCR4-mediated chemotaxis, and this is mediated by its enhancement of p38 MAPK activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

The stability of the G protein-coupled receptor-beta-arrestin interaction determines the mechanism and functional consequence of ERK activation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Cytokines and cell surface molecules independently induce CXCR4 expression on CD4+ CCR7+ human memory T cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Positive Regulation of CXCR4 Expression and Signaling by Interleukin-7 in CD4+Mature Thymocytes Correlates with Their Capacity To Favor Human Immunodeficiency X4 Virus Replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Involvement of CXCR4 and IL-2 in the homing and retention of human NK and NK T cells to the bone marrow and spleen of NOD/SCID mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

Stromal-cell derived factor is expressed by dendritic cells and endothelium in human skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00226.X

10.1111/J.0105-2896.2005.00226.X

21 January 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

PubMed ID

15661033