{
  "abstract": "Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) syndrome is a rare genetic immune dysregulation disorder that typically presents in infancy with autoimmunity, lymphoproliferation, susceptibility to infections and growth delay. We report a case of a man in his late 20s admitted to hospital multiple times with abdominal pain, fever and raised C-reactive protein, where imaging revealed progressive mesenteric lymphadenopathy. A definitive diagnosis remained elusive until genetic analysis highlighted a GOF heterozygous mutation in the STAT3 gene. Targeted therapy with Janus kinase inhibitor (tofacitinib) led to significant clinical and radiological improvement. This case underscores the value of a multidisciplinary assessment and early genome sequencing in diagnosing unexplained systemic manifestations, offering promising prospects for more effective management through targeted therapies.",
  "authors": [
    {
      "affiliations": [
        "Gastroenterology Department, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK",
        "Department of Genetics, Faculty of Medicine, Alexandria University, Alexandria, Egypt"
      ],
      "name": "Rofaida Desoki"
    },
    {
      "affiliations": [
        "Gastroenterology Department, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"
      ],
      "name": "Stephany Barreda"
    },
    {
      "affiliations": [
        "Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"
      ],
      "name": "Samir Khwaja"
    },
    {
      "affiliations": [
        "Gastroenterology Department, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"
      ],
      "name": "Miles Parkes"
    }
  ],
  "title": "STAT3 gain-of-function mutation presenting with adult-onset recurrent abdominal pain, fever and lymphadenopathy, managed by JAK inhibitor therapy",
  "uid": "c546d7a4-3466-5cd3-9c7d-ef035f5df438"
}