{
  "abstract": "Protein tyrosine phosphatase non-receptor type 2 (PTPN2) is a tyrosine phosphatase involved in T cell receptor signal transduction and cytokine response. Loss of function variants have previously been linked with immune mediated diseases such as inflammatory bowel disorders, rheumatoid arthritis and type 1 diabetes. We present a case of childhood interstitial lung disease with a newly identified pathogenic (PTPN2) gene variant in a boy aged 4 years.",
  "authors": [
    {
      "affiliations": [
        "Nottingham University Hospitals NHS Trust, Nottingham, England, UK"
      ],
      "name": "Nicola Jane Rowbotham"
    },
    {
      "affiliations": [
        "Institut Imagine, Université Paris Cité, Paris, France"
      ],
      "name": "Marie Jeanpierre"
    },
    {
      "affiliations": [
        "Imperial College London, London, England, UK",
        "Royal Brompton Hospital, London, England, UK"
      ],
      "name": "Andrew Bush"
    },
    {
      "affiliations": [
        "Nottingham University Hospitals NHS Trust, Nottingham, England, UK"
      ],
      "name": "Sumit Jagani"
    },
    {
      "affiliations": [
        "Nottingham University Hospitals NHS Trust, Nottingham, England, UK"
      ],
      "name": "Gabriela Jones"
    },
    {
      "affiliations": [
        "Nottingham University Hospitals NHS Trust, Nottingham, England, UK"
      ],
      "name": "Kishore Warrier"
    },
    {
      "affiliations": [
        "Institut Imagine, Université Paris Cité, Paris, France"
      ],
      "name": "Marianna Parlato"
    },
    {
      "affiliations": [
        "Institut Imagine, Université Paris Cité, Paris, France"
      ],
      "name": "Frederic Rieux-Laucat"
    },
    {
      "affiliations": [
        "Nottingham University Hospitals NHS Trust, Nottingham, England, UK"
      ],
      "name": "Jayesh Mahendra Bhatt"
    }
  ],
  "title": "New pathogenic PTPN2 variant leading to childhood interstitial lung disease",
  "uid": "0a147ff1-1fb2-50b7-b137-95c792a9c67a"
}