Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency

• DOI: 10.3389/fimmu.2024.1523256
• Publication Date: 2025-01-31T06:40:16Z
• Authors: Anna Roppelt; Ulyana Markina; Irina Beloglazova; Vasily Parshin; Dmitry Kanner; Dmitry Pershin; Mariia Fadeeva; Elena Raykina; Maxim Aleksenko; Alexander Karaulov; Mariana Lysenko; Daria Fomina
• Keywords: Immune Dysregulation

A heterozygous mutation in the PTPN2 gene has recently been described several patients exhibiting symptoms of immune dysregulation. The encodes a ubiquitous non-receptor T-cell protein tyrosine phosphatase that exerts negative feedback on JAK-STAT pathway. Limited clinical data are available advocating use JAK inhibitors as an effective treatment for autoimmune complications deficiency. However, mechanism pathogenesis these suggests this possibility. We report 32-year-old male patient with interstitial lung disease, cytopenia, and lymphadenopathy accompanied by de-novo deletion PTPN2. receiving systemic steroid decades, which resulted hormone dependence well therapy-related adverse side effects. After diagnosis deficiency, inhibitor ruxolitinib was initiated at dose 15 mg per day, escalated to 30 daily after 1 month. discontinued within 3 months. At 9- 16-month checkpoint, 6 13 months correspondingly monotherapy dosage had stable blood counts, decreased, disease improved. Thus, according our experience, able alleviate deficiency symptoms, including hematological changes damage.