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Nijmegen breakage syndrome: discovering the opportunities of neonatal screening
https://doi.org/10.25557/2073-7998.2025.09.84-88
Abstract
Nijmegen breakage syndrome is an autosomal recessive DNA repair disorder from the group of combined primary immunodeficiency (PID) or Inborn Errors of immunity (IEI), characterized by a well-defined phenotype (microcephaly), high frequency of infectious complications and predisposition to cancer. 99% of NBS cases in RF are associated with «Slavic» deletion c.657_661delACAAA in NBN gene in homozygous state in unrelated families. Due to the high risks of life-threatening complications patients benefit form hematopoietic stem cell transplantation received before malignancy. The study presents a case of a screen-positive (low TREC, KREC levels) newborn with microcephaly, quickly diagnosed with NBS and significantly delayed diagnoses in a case of his elder sister with the same phenotype. The neonatal screening (NS) program implementing TREC/KREC opens up opportunities for timely diagnosis and treatment of rare diseases, and also familial genetic counselling. Keywords: Nijmegen syndrome, TREC/KREC, expanded neonatal screening, congenital immune defects, immunodeficiency.
Keywords
Nijmegen syndrome,
TREC/KREC,
expanded neonatal screening,
congenital immune defects,
immunodeficiency
Supporting agencies: This study was supported by the state assignment of the Ministry of Science and Higher Education of the Russian Federation.
About the Authors
A. A. Mukhina
Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology, and Immunology; Federal State Budgetary Scientific Institution, Academician N.P. Bochkov Medical and Genetic Research Center
Russian Federation
Russian Federation
1. Samory Mashela st., Moscow, 117198; 1, Moskvorechye st., Moscow, 115522
I. Yu. Efimova
Federal State Budgetary Scientific Institution, Academician N.P. Bochkov Medical and Genetic Research Center
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
N. Yu. Kan
Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology, and Immunology
Russian Federation
Russian Federation
1. Samory Mashela st., Moscow, 117198
I. I.N Abramova
Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology, and Immunology
Russian Federation
Russian Federation
1. Samory Mashela st., Moscow, 117198
M. A. Ampleeva
Federal State Budgetary Scientific Institution, Academician N.P. Bochkov Medical and Genetic Research Center
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
Yu. A. Rodina
Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology, and Immunology
Russian Federation
Russian Federation
1. Samory Mashela st., Moscow, 117198
S. V. Voronin
Federal State Budgetary Scientific Institution, Academician N.P. Bochkov Medical and Genetic Research Center
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
A. Shcherbina
Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology, and Immunology
Russian Federation
Russian Federation
1. Samory Mashela st., Moscow, 117198
A. V. Marakhonov
Federal State Budgetary Scientific Institution, Academician N.P. Bochkov Medical and Genetic Research Center
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
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Review
For citations:
Mukhina A.A., Efimova I.Yu., Kan N.Yu., Abramova I.I., Ampleeva M.A., Rodina Yu.A., Voronin S.V., Shcherbina A., Marakhonov A.V. Nijmegen breakage syndrome: discovering the opportunities of neonatal screening. Medical Genetics. 2025;24(9):84-88. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.84-88
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