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CASE REPORT article

Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1523256

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

Provisionally accepted
Anna Roppelt Anna Roppelt 1*Ulyana Markina Ulyana Markina 1Irina Beloglazova Irina Beloglazova 1,2Vasily Parshin Vasily Parshin 1Dmitry Kanner Dmitry Kanner 3Dmitry Pershin Dmitry Pershin 4Mariia Fadeeva Mariia Fadeeva 4Elena Raykina Elena Raykina 4Maxim Aleksenko Maxim Aleksenko 4Alexander Victor Karaulov Alexander Victor Karaulov 5Mariana Lysenko Mariana Lysenko 1,2Daria Fomina Daria Fomina 1,5,6
  • 1 Moscow Research and Practical Center of Allergy and Immunology, Clinical City Hospital 52 Ministry of Healthcare of Moscow, Moscow, Russia
  • 2 Pirogov Russian National Research Medical University, Moscow, Moscow Oblast, Russia
  • 3 Moscow Oncology Hospital 62 Ministry of Healthcare of Moscow, Russia, Moscow, Russia
  • 4 Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Moscow Oblast, Russia
  • 5 I.M. Sechenov First Moscow State Medical University, Moscow, Moscow Oblast, Russia
  • 6 Astana Medical University, Astana, Kazakhstan, Astana, Kazakhstan

The final, formatted version of the article will be published soon.

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

    Keywords: PTPN2, Immune dysregulation, inborn errors of immunity, JAK-inhibitor, case report

    Received: 05 Nov 2024; Accepted: 31 Dec 2024.

    Copyright: © 2024 Roppelt, Markina, Beloglazova, Parshin, Kanner, Pershin, Fadeeva, Raykina, Aleksenko, Karaulov, Lysenko and Fomina. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Anna Roppelt, Moscow Research and Practical Center of Allergy and Immunology, Clinical City Hospital 52 Ministry of Healthcare of Moscow, Moscow, Russia

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