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X-Linked Neutropenia/Myelodysplasia

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Encyclopedia of Medical Immunology

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Synonyms

Neutropenia with myelodysplasia; X-linked severe congenital neutropenia

Definition

X-linked neutropenia (OMIM #300299) is an X-linked form of severe non-syndromic congenital neutropenia, caused by mutation in the WASP gene (OMIM ∗300392) mapped to the short arm of the X chromosome, Xp11.23.

Introduction

X-linked neutropenia (XLN) is a rare severe congenital neutropenia (SCN) due to an activating mutation of WASP gene. As a result, the gene product Wiskott-Aldrich syndrome protein (WASP) is overactive. Mutations of the WASP gene are responsible for three distinct phenotypes: X-linked thrombocytopenia (XLT), classic Wiskott-Aldrich syndrome (WAS), and XLN. XLN is characterized by profound neutropenia, associated with monocytopenia and T lymphopenia, and an increased risk of myelodysplasia (MDS) and acute myeloid leukemia (AML). XLN is a rare cause of severe congenital neutropenias affecting about 2% of cases (Ochs 2009; Skokowa et al. 2017; Spoor et al. 2019).

Pathogenesis and...

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References

  • Dale DC. How I diagnose and treat neutropenia. Curr Opin Hematol. 2016;23:1–4.

    Article  Google Scholar 

  • Errante PR, Josias Brito Frazão JB, Condino Neto A. Congenital neutropenia. Braz J Allergy Immunol. 2013;1:23–38.

    Google Scholar 

  • Keszei M, Record J, Kritikou JS, et al. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2018;128:4115–31.

    Article  Google Scholar 

  • Kobayashi M, Yokoyama K, Shimizu E, et al. Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation. Ann Hematol. 2018;97:367–9.

    Article  CAS  Google Scholar 

  • Kuruvilla M, de la Morena MT. Antibiotic prophylaxis in primary immune deficiency disorders. J Allergy Clin Immunol Pract. 2013;1:573–82.

    Article  Google Scholar 

  • Moulding DA, Moeendarbary E, Valon L, et al. Excess F-actin mechanically impedes mitosis leading to cytokinesis failure in X-linked neutropenia by exceeding Aurora B kinase error correction capacity. Blood. 2012;120:3803–11.

    Article  CAS  Google Scholar 

  • Ochs HD. Mutations of the Wiskott–Aldrich syndrome protein affect protein expression and dictate the clinical phenotypes. Immunol Res. 2009;44:84–8.

    Article  CAS  Google Scholar 

  • Oshima K, Imai K, Albert MH, Bittner TC, et al. Hematopoietic stem cell transplantation for X-linked thrombocytopenia with mutations in the WAS gene. J Clin Immunol. 2015;35:15–21.

    Article  Google Scholar 

  • Skokowa J, Dale DC, Touw IP, et al. Severe congenital neutropenias. Nat Rev Dis Primers. 2017;3:17032.

    Article  Google Scholar 

  • Sobh A, Bonilla FA. Vaccination in primary immunodeficiency disorders. J Allergy Clin Immunol Pract. 2016;4:1066–75.

    Article  Google Scholar 

  • Spoor J, Farajifard H, Rezaei N. Congenital neutropenia and primary immunodeficiency diseases. Crit Rev Oncol Hematol. 2019;133:149–62.

    Article  Google Scholar 

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Author information

Authors and Affiliations

  1. Division of Clinical Immunology and Allergy, Department of Clinical Medicine, State University of Campinas (UNICAMP), Campinas, Brazil

    Eli Mansour & Denise Leite-Caldeira

Authors
  1. Eli Mansour
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  2. Denise Leite-Caldeira
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Corresponding author

Correspondence to Eli Mansour .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, VIC, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Noel R. Rose

Section Editor information

  1. Department of Immunology, Institute of Biomedical Sciences – University of São Paulo, São Paulo, SP, Brazil

    Antonio Condino-Neto

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Mansour, E., Leite-Caldeira, D. (2020). X-Linked Neutropenia/Myelodysplasia. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_138-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_138-1

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  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

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