Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency
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 are ava...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2024.1523256/full |
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| author | Anna Roppelt Ulyana Markina Irina Beloglazova Irina Beloglazova Vasily Parshin Dmitry Kanner Dmitry Pershin Mariia Fadeeva Elena Raykina Maxim Aleksenko Alexander Karaulov Mariana Lysenko Mariana Lysenko Daria Fomina Daria Fomina Daria Fomina |
| author_facet | Anna Roppelt Ulyana Markina Irina Beloglazova Irina Beloglazova Vasily Parshin Dmitry Kanner Dmitry Pershin Mariia Fadeeva Elena Raykina Maxim Aleksenko Alexander Karaulov Mariana Lysenko Mariana Lysenko Daria Fomina Daria Fomina Daria Fomina |
| author_sort | Anna Roppelt |
| collection | DOAJ |
| description | 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 are 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-year-old 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, which was escalated to 30 mg daily after 1 month. The steroid treatment was discontinued within 3 months. At the 9- and 16-month checkpoint, after 6 and 13 months correspondingly of monotherapy with ruxolitinib at a dosage of 30 mg per day, the patient had stable blood counts, lymphadenopathy decreased, and the lung interstitial disease improved. Thus, according to our experience, JAK inhibitors are able to alleviate the PTPN2 deficiency symptoms, including hematological changes and interstitial lung damage. |
| format | Article |
| id | doaj-art-f5ac9e31f928486f8f152ad70fc91b70 |
| institution | Kabale University |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj-art-f5ac9e31f928486f8f152ad70fc91b702025-01-31T06:40:01ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-01-011510.3389/fimmu.2024.15232561523256Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiencyAnna Roppelt0Ulyana Markina1Irina Beloglazova2Irina Beloglazova3Vasily Parshin4Dmitry Kanner5Dmitry Pershin6Mariia Fadeeva7Elena Raykina8Maxim Aleksenko9Alexander Karaulov10Mariana Lysenko11Mariana Lysenko12Daria Fomina13Daria Fomina14Daria Fomina15Moscow Research and Practical Center of Allergy and Immunology, Clinical City Hospital 52, Department of Health of the City of Moscow, Moscow, RussiaMoscow Research and Practical Center of Allergy and Immunology, Clinical City Hospital 52, Department of Health of the City of Moscow, Moscow, RussiaMoscow Research and Practical Center of Allergy and Immunology, Clinical City Hospital 52, Department of Health of the City of Moscow, Moscow, RussiaDepartment of Therapy, Pirogov Russian National Research Medical University, Moscow, RussiaMoscow Research and Practical Center of Allergy and Immunology, Clinical City Hospital 52, Department of Health of the City of Moscow, Moscow, RussiaMoscow Oncology Hospital 62, Department of Health of the City of Moscow, Moscow, RussiaLaboratory of Hematopoietic Stem Cell Transplantation and Immunotherapy and Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaLaboratory of Hematopoietic Stem Cell Transplantation and Immunotherapy and Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaLaboratory of Hematopoietic Stem Cell Transplantation and Immunotherapy and Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaLaboratory of Hematopoietic Stem Cell Transplantation and Immunotherapy and Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaDepartment of Clinical Immunology and Allergy, First Sechenov Moscow State Medical University (Sechenov University), Moscow, RussiaMoscow Research and Practical Center of Allergy and Immunology, Clinical City Hospital 52, Department of Health of the City of Moscow, Moscow, RussiaDepartment of Therapy, Pirogov Russian National Research Medical University, Moscow, RussiaMoscow Research and Practical Center of Allergy and Immunology, Clinical City Hospital 52, Department of Health of the City of Moscow, Moscow, RussiaDepartment of Clinical Immunology and Allergy, First Sechenov Moscow State Medical University (Sechenov University), Moscow, RussiaDepartment of Pulmonology, Astana Medical University, Astana, KazakhstanA 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 are 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-year-old 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, which was escalated to 30 mg daily after 1 month. The steroid treatment was discontinued within 3 months. At the 9- and 16-month checkpoint, after 6 and 13 months correspondingly of monotherapy with ruxolitinib at a dosage of 30 mg per day, the patient had stable blood counts, lymphadenopathy decreased, and the lung interstitial disease improved. Thus, according to our experience, JAK inhibitors are able to alleviate the PTPN2 deficiency symptoms, including hematological changes and interstitial lung damage.https://www.frontiersin.org/articles/10.3389/fimmu.2024.1523256/fullPTPN2immune dysregulationinborn errors of immunityJAK-inhibitorcase report |
| spellingShingle | Anna Roppelt Ulyana Markina Irina Beloglazova Irina Beloglazova Vasily Parshin Dmitry Kanner Dmitry Pershin Mariia Fadeeva Elena Raykina Maxim Aleksenko Alexander Karaulov Mariana Lysenko Mariana Lysenko Daria Fomina Daria Fomina Daria Fomina Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency Frontiers in Immunology PTPN2 immune dysregulation inborn errors of immunity JAK-inhibitor case report |
| title | Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency |
| title_full | Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency |
| title_fullStr | Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency |
| title_full_unstemmed | Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency |
| title_short | Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency |
| title_sort | case report jak inhibitor treatment of immune dysregulation symptoms in a patient with ptpn2 deficiency |
| topic | PTPN2 immune dysregulation inborn errors of immunity JAK-inhibitor case report |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2024.1523256/full |
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