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Family case of type 2 agammaglobulinemia identified during expanded neonatal screening
https://doi.org/10.25557/2073-7998.2025.08.61-62
Abstract
A family case of type 2 agammaglobulinemia was described, identified during expanded neonatal screening (ENS) in the Krasnodar region. Molecular genetic testing allowed for the diagnosis to be made not only for the newborn but also for the brother of the proband. Timely medical genetic counseling will help prevent the birth of affected children with this condition in this family.
Supporting agencies: The study was conducted without sponsorship
About the Authors
S. A. Korhmazova
Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1 Ministry of Health of Krasnodar region; Kuban State Medical University of Public Health Care of Russia
Russian Federation
Russian Federation
350086; 167, 1 Maya st.; 350063; 4, Mitrofana Sedina st.; Krasnodar
S. A. Matulevich
Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1 Ministry of Health of Krasnodar region; Kuban State Medical University of Public Health Care of Russia
Russian Federation
Russian Federation
350086; 167, 1 Maya st.; 350063; 4, Mitrofana Sedina st.; Krasnodar
T. A. Golikhina
Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1 Ministry of Health of Krasnodar region
Russian Federation
Russian Federation
350086; 167, 1 Maya st.; Krasnodar
P. D. Lashevich
Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1 Ministry of Health of Krasnodar region; Kuban State Medical University of Public Health Care of Russia
Russian Federation
Russian Federation
350086; 167, 1 Maya st.; 350063; 4, Mitrofana Sedina st.; Krasnodar
References
1. Efimova E.Yu., Mukhina A.A., Balinova N.V. et al. Neonatal’nyy skrining na pervichnyye immunodefitsitnyye sostoyaniya kak sposob vyyavleniya sindromal’nykh form patologii novorozhdennykh: klinicheskiy sluchay sindroma 22q11.2DS [Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome]. Voprosy gematologii/onkologii i immunopatologii v pediatrii [Pediatric Hematology/Oncology and Immunopathology]. 2022; 21 (4): 158–62. (In Russ.) DOI: 10.24287/1726-1708-2022-21-4-158-162
2. Cardenas-Morales M., Hernandez-Trujillo V.P. Agammaglobulinemia: from X-linked to Autosomal Forms of Disease. Clin Rev Allergy Immunol. 2022;63(1):22-35. doi: 10.1007/s12016-021-08870-5.
Review
For citations:
Korhmazova S.A., Matulevich S.A., Golikhina T.A., Lashevich P.D. Family case of type 2 agammaglobulinemia identified during expanded neonatal screening. Medical Genetics. 2025;24(8):61-62. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.61-62
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