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

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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Bibliographic Details
Main 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Immunology
Subjects:
PTPN2
immune dysregulation
inborn errors of immunity
JAK-inhibitor
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1523256/full
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