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World J Clin Pediatr. Sep 9, 2026; 15(3): 119428
Published online Sep 9, 2026. doi: 10.5409/wjcp.119428
Published online Sep 9, 2026. doi: 10.5409/wjcp.119428
Clinical and laboratory manifestations and treatment of children with TNFRSF1A gene variants
Ekaterina I Alexeeva, Meiri Sh Shingarova, Tatyana M Dvoryakovskaya, Ksenia B Isaeva, Aleksandra M Chomakhidze, Anna N Fetisova, Kristina V Chibisova, Elizaveta A Krekhova, Ivan A Kriulin, Tatyana Y Kriulina, Irina T Tsulukiya, Maria S Botova, Natalya M Kondratyeva, Maria Y Kokina, Anastasia A Makunc, Narvik A Dostiev, Department of Pediatric Rheumatology, National Medical Research Center of Children’s Health, Moscow 119991, Moskva, Russia
Ekaterina I Alexeeva, Tatyana M Dvoryakovskaya, Department of Pediatrics and Pediatric Rheumatology, Clinical Institute of Children’s Health Named After N.F. Filatov of the I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 119435, Moskva, Russia
Kirill V Savostyanov, Aleksandr A Pushkov, Ilya S Zhanin, Dmitry S Demyanov, Department of Medical Genetics of the Medical and Genetic Center, National Medical Research Center of Children’s Health, Moscow 119991, Moskva, Russia
Mikhail M Kostik, Hospital Pediatry, Saint Petersburg State Pediatric Medical University, Saint Petersburg 194100, Sankt-Peterburg, Russia
Author contributions: Alexeeva EI, Shingarova MS, and Kostik MM contributed to conceptualization, writing review, editing, writing original draft, funding, supervision, and project administration; Shingarova MS and Kriulina TY contributed to statistical analysis; Shingarova MS, Isaeva KB, Chomakhidze AM, Fetisova AN, Chibisova KV, Krekhova EA, Kriulin IA, Kriulina TY, Tsulukiya IT, Botova MS, Kondrateva NM, Kokina MY, Makunc AA and Dostiev NA contributed to investigation; Savostyanov KV, Pushkov AA, Zhanin IS, Demyanov DS contributed to genetic research and interpretation of the results; Alexeeva EI and Dvoryakovskaya TM contributed to validation; all authors have read and agreed to the published version of the manuscript.
Institutional review board statement: The Ethics Committee of the I.M. Sechenov First Moscow State Medical University (Sechenov University) approved the study protocol (No. 12-25, 22 May 2025).
Informed consent statement: Written informed consent was obtained from all patients or their legal guardians (for patients aged < 15 years).
Conflict-of-interest statement: The authors declare no conflicts of interest.
STROBE statement: The authors have read the STROBE Statement—checklist of items, and the manuscript was prepared and revised according to the STROBE Statement—checklist of items.
Data sharing statement: The datasets generated during and/or analyzed during the current study are available from the corresponding author upon reasonable request.
Corresponding author: Mikhail M Kostik, MD, PhD, Professor, Hospital Pediatry, Saint Petersburg State Pediatric Medical University, Lytovskaya 2, Saint Petersburg 194100, Sankt-Peterburg, Russia. kost-mikhail@yandex.ru
Received: January 27, 2026
Revised: February 7, 2026
Accepted: March 11, 2026
Published online: September 9, 2026
Processing time: 187 Days and 2.2 Hours
Revised: February 7, 2026
Accepted: March 11, 2026
Published online: September 9, 2026
Processing time: 187 Days and 2.2 Hours
Core Tip
Core Tip: In this study, we perform a comparative analysis of clinical and laboratory data from patients with TNFRSF1A variants and from patients with systemic juvenile idiopathic arthritis without variants in autoinflammation-associated genes, as well as an analysis of drug therapy. As a result of the study, the phenotypic features of patients with tumor necrosis factor receptor-associated periodic syndrome were identified, allowing them to suspect the disease before receiving genetic test results and to identify the most effective drugs for their treatment.