Nijmegen Breakage Syndrome – NBS: а Rare Clinical Case in Kazakhstan

Elena F. Kovzel 1, Bayan Gani 1 * , Adil A. Zhamankulov 2, Assel K. Baigojayeva 1
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1 Clinical Immunology and Allergology Program, Corporate Foundation "University Medical Center", Astana, Kazakhstan
2 Department of Pediatrics, Corporate Foundation "University Medical Center", Astana, Kazakhstan
* Corresponding Author
J CLIN MED KAZ, Volume 21, Issue 2, pp. 95-98. https://doi.org/10.23950/jcmk/14498
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Author Contributions: Conceptualization, B.G., AZh, and  A.B.; methodology, E.F., A.Zh and B.G.; validation, A.B. and B.G.; formal analysis, A.Zh.; investigation, A.Zh. and A.B.; resources, E.F. and B.G.; data curation, A.B., A.Zh.; writing – original draft preparation, A.Zh., A.B.; writing – review and editing, B.G., A.B. and A.Zh.; visualization, E,F.; supervision, E.F. All authors have read and agreed to the published version of the manuscript.

Patient informed consent: This clinical case is presented after parental consent.

ABSTRACT

Nijmegen syndrome is a primary immunodeficiency characterized by chromosomal instability, microcephaly, physical retardation, specific disorders of the facial skeleton, as well as a predisposition to cancer. Most patients of Slavic origin have a homozygous mutation with the del5 founder effect in the NBS gene. The frequency of occurrence is 1:100000population. The highest frequency of carriage in the population of the del5 mutation in the NBS gene in the Czech Republic is 1:154, in Ukraine – 1:182, in Poland – 1:190. This pathology is presented in our clinical practice for the first time, and therefore we would like to provide data for a wide review
Keywords: NBS, autosomal recessive disorder, primary immune deficiency, microcephaly

CITATION

Kovzel EF, Gani B, Zhamankulov AA, Baigojayeva AK. Nijmegen Breakage Syndrome – NBS: а Rare Clinical Case in Kazakhstan. J CLIN MED KAZ. 2024;21(2):95-8. https://doi.org/10.23950/jcmk/14498

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