Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Nijmegen Breakage Syndrome (NBS1)

  • Svetlana O. SharapovaEmail author
  • Larysa V. Kostyuchenko
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_161-1

Synonyms

Definition

Nijmegen breakage syndrome (NBS) is an autosomal-recessive chromosome instability disorder characterized by growth and developmental defects (growth retardation, severe and progressive microcephaly, a distinct facial appearance, lack of secondary sex characteristics in females, and frequent cryptorchism in males), immunodeficiency, high susceptibility to lymphoid malignancies, hypersensitivity to ionizing radiation, and aberrant cell-cycle checkpoint control (Varon et al. 2017; Seemanova et al. 2016). The disease is caused by mutations in the NBN gene (also abbreviated NBS, NBS1) and is located on chromosome 8q21 (GRCh38.p2: 89,933,336–89,984,733).

Introduction/Background

In 1981, Weemaes et al. from the University Hospital of Nijmegen, the Netherlands, first described the syndrome in two Dutch brothers with microcephaly, short stature, skin pigmentation abnormalities, mental...

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References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Svetlana O. Sharapova
    • 1
    Email author
  • Larysa V. Kostyuchenko
    • 2
  1. 1.Research DepartmentBelarusian Research Center for Pediatric Oncology, Hematology and ImmunologyMinskBelarus
  2. 2.Department of Clinical Immunology and AllergologyDanylo Halytsky Lviv National Medical University, West-Ukrainian Specialized Children’s Medical CenterLvivUkraine

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA