Nijmegen breakage syndrome – NBS: а rare clinical case in Kazakhstan
Kovzel E. Gani B. Zhamankulov A. Baigojayeva A.
2024National Scientific Medical Center
Journal of Clinical Medicine of Kazakhstan
2024#21Issue 295 - 98 pp.
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.
autosomal recessive disorder , microcephaly , NBS , primary immune deficiency
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Clinical Immunology and Allergology Program, Corporate Foundation University Medical Center, Astana, Kazakhstan
Department of Pediatrics, Corporate Foundation University Medical Center, Astana, Kazakhstan
Clinical Immunology and Allergology Program
Department of Pediatrics
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