CASE OF LATE NIJMEGEN BREAKAGE SYNDROME DIAGNOSIS IN ADOLESCENT WITH FREQUENT DIFFUSE B-CELL LYMPHOMA RECURRENCES
https://doi.org/10.35266/2949-3447-2026-1-8
Abstract
The article presents a case follow-up of a child with severe forms of recurrent infectious and oncological diseases at various stages of the differential diagnostic procedure for primary immunodeficiency (PID) identification. The most significant and frequently diagnosed PID in Russia and Europe is Nijmegen breakage syndrome (NBS). NBS is a recessive genetic disorder caused by NBN gene mutations, where dysimmunity accompanies a child's congenital anomalies. The paper describes the monitoring of a 17-year-old adolescent with Nijmegen breakage syndrome complicated by recurrent large B-cell lymphoma and reveals its findings. Initially, the patient was diagnosed with Nijmegen breakage syndrome at age 14 via molecular and genetic analysis after B-cell lymphoma recurrence.
About the Authors
E. S. Sharskaya
N. I. Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, Moscow
Russian Federation
Russian Federation
Resident
V. L. Marchuk
Omsk State Medical University of the Ministry of Health of the Russian Federation, Omsk
Russian Federation
Russian Federation
Assistant Professor
N. A. Simonova
Children’s City Clinical Hospital No. 2 named after V. P. Bisyarina, Omsk
Russian Federation
Russian Federation
Allergologist, Pulmonologist
O. A. Lyapunova
St. Petersburg State Pediatric Medical University of the Ministry of Healthcare of the Russian Federation, Saint Petersburg
Russian Federation
Russian Federation
Resident
O. V. Antonov
Omsk State Medical University of the Ministry of Health of the Russian Federation, Omsk
Russian Federation
Russian Federation
Doctor of Sciences (Medicine), Docent
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For citations:
Sharskaya E.S., Marchuk V.L., Simonova N.A., Lyapunova O.A., Antonov O.V. CASE OF LATE NIJMEGEN BREAKAGE SYNDROME DIAGNOSIS IN ADOLESCENT WITH FREQUENT DIFFUSE B-CELL LYMPHOMA RECURRENCES. Vestnik SurGU. Meditsina. 2026;19(1):64–70. (In Russ.) https://doi.org/10.35266/2949-3447-2026-1-8
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