Skip to main content
SpringerLink
Log in
Book cover

Pediatric Immunology pp 677–682Cite as

Microcephaly and a History of Recurrent Respiratory Infections

  • Chapter
  • First Online:

  • 48 Accesses

Abstract

Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder characterized by microcephaly and immunodeficiency

NBS occurs predominantly in patients of Slavic origin

Patients with NBS are radiosensitive and predisposed to hematological malignancies

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   159.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis. 2012;7:13.

    Article  Google Scholar 

  2. Varon R, Demuth I, Chrzanowska KH. Nijmegen breakage syndrome. GeneReviews®2017.

    Google Scholar 

  3. Altmann T, Gennery A. DNA ligase IV syndrome; a review. Orphanet J Rare Dis. 2016;11(1):137.

    Article  Google Scholar 

  4. Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dork T. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet. 2009;84(5):605–16.

    Article  CAS  Google Scholar 

  5. Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. Am J Med Genet A. 2005;137a(3):283–7.

    Article  Google Scholar 

  6. Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell. 2006;124(2):287–99.

    Article  CAS  Google Scholar 

  7. Kostyuchenko LMH, Kitsera N, Polishchuk R, Makarevych N, Akopian H. Nijmegen breakage syndrome in Ukraine: diagnostics and follow-up Centr. Eur J Immunol. 2009;34:46–52.

    Google Scholar 

  8. Sharapova SSI, Pashchenko O, Bondarenko A, Kostyuchenko L, et al. Frequency and spectrum of malignancies in 120 East Slavic patients with Nijmegen Breakage syndrome. Conference: 17th Biennial meeting of the European Society for Immunodeficiencies, Barcelona, Spain21–24 September, 2016.

    Google Scholar 

  9. Wolska-Kuśnierz BGH, Chrzanowska K, et al. Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options - a retrospective analysis. J Clin Immunol. 2015;35:538–49.

    Article  Google Scholar 

  10. Deripapa E, Balashov D, Rodina Y, Laberko A, Myakova N, Davydova NV, Gordukova MA, Abramov DS, Pay GV, Shelikhova L, Prodeus AP, Maschan MA, Maschan AA, Shcherbina A. Prospective Study of a Cohort of Russian Nijmegen breakage syndrome patients demonstrating predictive value of low Kappa-Deleting Recombination Excision Circle (KREC) numbers and beneficial effect of Hematopoietic Stem Cell Transplantation (HSCT). Front Immunol. 2017;8:807.

    Article  Google Scholar 

  11. Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet. 2000;8(11):900–2.

    Article  CAS  Google Scholar 

  12. Kaba S, Keskindemirci G, Aydogmus C, Siraneci R, Cipe FE. Immediate adverse reactions to intravenous immunoglobulin in children: a single center experience. Eur Ann Allergy Clin Immunol. 2017;49(1):11–4.

    CAS  PubMed  Google Scholar 

  13. Bichuetti-Silva D, Furlan F, Nobre F. Immediate infusion-related adverse reactions to intravenous immunoglobulin in a prospective cohort of 1765 infusions. Int Immunopharmacol. 2014;23(2):442–6.

    Article  CAS  Google Scholar 

  14. Dashti-Khavidaki S, Aghamohammadi A, Farshadi F. Adverse reactions of prophylactic intravenous immunoglobulin: a 13-year experience with 3004 infusions in Iranian patients with primary immunodeficiency diseases. J Investig Allergol Clin Immunol. 2009;19(2):139–45.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Shupyk National Medical Academy for Postgraduate Education, Department of Pediatric Infectious Diseases and Pediatric Immunology, Kiev, Ukraine

    Anastasiia Bondarenko

Authors
  1. Anastasiia Bondarenko
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Immunology, School of Medicine, Research Center for Immunodeficiencies (RCID)Children’s Medical Center, Tehran University of Medical Sciences (TUMS), Tehran, Iran

    Nima Rezaei

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Bondarenko, A. (2019). Microcephaly and a History of Recurrent Respiratory Infections. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_125

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-21262-9_125

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-21261-2

  • Online ISBN: 978-3-030-21262-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation