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Published on: October 9, 2016
[Immune dysregulation syndrome caused by STAT3 gene mutation: a complicated case study]
An-Qi Yao1, Ke-Ke Chen1, Xiang-Ling He1
1Department of Pediatric Hematologic Oncology, First Affiliated Hospital of Hunan Normal University/Children's Medical Center of Hunan People's Hospital, Changsha 410005, China.
Insights
A young boy with a STAT3 gene mutation was diagnosed with immune dysregulation syndrome. Regular corticosteroid therapy effectively managed his symptoms, offering insights for future treatment.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Immune dysregulation syndrome is a rare condition affecting immune system function.
- STAT3 gene mutations are implicated in various immune disorders.
- Early diagnosis and appropriate management are crucial for patient outcomes.
Observation:
- A 4-year-old boy presented with recurrent infections, fever, cough, weakness, hepatosplenomegaly, lymphadenectasis, and pancytopenia.
- Genetic analysis revealed a pathogenic heterozygous mutation (c.C2147 > T(p.T716M)) in the STAT3 gene.
- Initial treatments with anti-infectives and irregular corticosteroids were ineffective.
Findings:
- The patient was diagnosed with immune dysregulation syndrome secondary to a STAT3 gene mutation.
- Regular corticosteroid therapy led to significant symptom improvement.
- This case highlights the impact of STAT3 mutations on immune function.
Implications:
- This case underscores the importance of genetic testing in diagnosing complex immune disorders.
- Effective management strategies, including regular corticosteroid use, can improve clinical outcomes.
- Further research into STAT3-related immune dysregulation is warranted for improved therapeutic approaches.
Abstract:
A boy, aged 4 years and 6 months, had disease onset of fever, cough, pale complexion, and weakness, with hepatosplenomegaly, lymphadenectasis, and pancytopenia. He had been having repeated respiratory and digestive tract infections. Gene detection showed a pathogenic heterozygous mutation, c.C2147 > T(p.T716M), in the STAT3 gene. The boy was thus diagnosed with immune dysregulation syndrome. Anti-infective therapy and irregular corticosteroid therapy had an unsatisfactory effect in the early stage, but the symptoms improved after regular corticosteroid therapy. This article reported the case of immune dysregulation syndrome caused by STAT3 gene mutation and summarized the epidemiology, clinical features, diagnosis, and treatment of this disease, which can provide a reference for early diagnosis, treatment, and future studies of this disease.
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