CASE REPORT article
Front. Pediatr.
Sec. Pediatric Rheumatology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1618483
SOCS1 Insufficiency in Systemic Lupus Erythematosus in a Child: A Case Report
Provisionally accepted
- Department of Pediatrics, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
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This case report details a 6-year-old Han Chinese girl diagnosed with Systemic Lupus Erythematosus (SLE) associated with a frameshift variant in the SOCS1 gene. Initially presenting with fever and rash, the patient exhibited abnormal liver function, hypocomplementemia, and positive antinuclear and anti-dsDNA antibodies. Genetic testing identified a heterozygous frameshift mutation in the SOCS1 gene, inherited from her mother. The girl was treated with intravenous methylprednisolone, oral prednisolone, hydroxychloroquine, and mycophenolate mofetil, leading to significant clinical improvement. Considering the clinically relevant variant in SOCS1, the findings suggest that identifying pathogenic genes can facilitate the development of new therapeutic targets and biomarkers, with JAK inhibitors showing promise for treating SOCS1-related conditions.
Keywords: systemic lupus erythematosus, SOCS1 haploinsufficiency, Child, phospholipid antibody, case report
Received: 26 Apr 2025; Accepted: 04 Jul 2025.
Copyright: © 2025 Cao, Wang, Zhang and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Lu Cao, Department of Pediatrics, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China
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