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SOCS1 insufficiency in systemic lupus erythematosus in a child: a case report

Lu Cao1, Qin Wang1, Huating Zhang1

  • 1Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.

Frontiers in Pediatrics
|August 4, 2025
PubMed

Insights

A child with Systemic Lupus Erythematosus (SLE) had a frameshift variant in the SOCS1 gene. This genetic finding offers new therapeutic targets and biomarkers for SLE treatment.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease.
  • Genetic factors play a significant role in SLE pathogenesis.
  • The SOCS1 gene is a potential candidate in autoimmune disorders.

Observation:

  • A 6-year-old girl presented with typical SLE symptoms including fever and rash.
  • The patient displayed laboratory evidence of lupus, such as hypocomplementemia and autoantibodies.
  • A heterozygous frameshift variant in the SOCS1 gene was identified in the patient and her mother.

Findings:

  • The identified SOCS1 variant was associated with the patient's SLE diagnosis.
  • Treatment with standard immunosuppressants and hydroxychloroquine resulted in clinical improvement.
  • This case highlights a potential genetic link between SOCS1 mutations and SLE.

Implications:

  • Identifying pathogenic genes like SOCS1 can lead to novel therapeutic strategies for SLE.
  • SOCS1 variants may serve as biomarkers for disease diagnosis or prognosis.
  • JAK inhibitors show promise for treating SOCS1-related autoimmune conditions.

Keywords:
SOCS1 insufficiencycase reportchildphospholipid antibodysystemic lupus erythematosus

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