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Comment
. 2024 Sep 2;221(9):e20240980.
doi: 10.1084/jem.20240980. Epub 2024 Jul 19.

PTPN2 deficiency: Amping up JAK/STAT

Joshua M Tobin  1 , Megan A Cooper  1
Affiliations
Comment

PTPN2 deficiency: Amping up JAK/STAT

Joshua M Tobin et al. J Exp Med. .

Abstract

Identification of monogenic causes of immune dysregulation provides insight into human immune response and signaling pathways associated with autoimmunity. Here, Jeanpierre et al. (https://doi.org/10.1084/jem.20232337) identify new germline variants in the gene encoding PTPN2 associated with loss of regulatory function, enhanced JAK/STAT signaling, and early-onset autoimmunity.

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Conflict of interest statement

Disclosures: The authors declare no conflicts of interest.

Figures

None
Insights from Joshua M. Tobin and Megan A. Cooper.
None
Monogenic JAK/STAT pathway IEI leading to immune dysregulation. P, phosphorylated protein. Created with Biorender.com.
See this image and copyright information in PMC

Comment on

  • Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
    Jeanpierre M, Cognard J, Tusseau M, Riller Q, Bui LC, Berthelet J, Laurent A, Crickx E, Parlato M, Stolzenberg MC, Suarez F, Leverger G, Aladjidi N, Collardeau-Frachon S, Pietrement C, Malphettes M, Froissart A, Bole-Feysot C, Cagnard N, Rodrigues Lima F, Walzer T, Rieux-Laucat F, Belot A, Mathieu AL. Jeanpierre M, et al. J Exp Med. 2024 Sep 2;221(9):e20232337. doi: 10.1084/jem.20232337. Epub 2024 Jul 19. J Exp Med. 2024. PMID: 39028869 Free PMC article.

References

    1. Awwad, J., et al. . 2023. J. Genet. 102:37. 10.1007/s12041-023-01433-x - DOI - PubMed
    1. Baghdassarian, H., et al. . 2023. N. Engl. J. Med. 10.1056/NEJMoa2202318 - DOI
    1. Flanagan, S.E., et al. . 2014. Nat. Genet. 10.1038/ng.3040 - DOI
    1. Gruber, C., and Bogunovic D.. 2020. Hum. Genet. 10.1007/s00439-020-02131-9 - DOI - PMC - PubMed
    1. Hadjadj, J., et al. . 2020. Nat. Commun. 10.1038/s41467-020-18925-4 - DOI

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