PTPN2 deficiency: Amping up JAK/STAT

Joshua M. Tobin; Megan A. Cooper

doi:10.1084/jem.20240980

PTPN2 deficiency: Amping up JAK/STAT

Joshua M. Tobin
, Megan A. Cooper

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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 earlyonset autoimmunity.

Original language	English
Article number	e20240980
Journal	Journal of Experimental Medicine
Volume	221
Issue number	9
DOIs	https://doi.org/10.1084/jem.20240980
State	Published - Sep 2 2024

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title = "PTPN2 deficiency: Amping up JAK/STAT",

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 earlyonset autoimmunity.",

author = "Tobin, \{Joshua M.\} and Cooper, \{Megan A.\}",

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year = "2024",

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AU - Cooper, Megan A.

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N2 - 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 earlyonset autoimmunity.

AB - 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 earlyonset autoimmunity.

UR - https://www.scopus.com/pages/publications/85199241723

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DO - 10.1084/jem.20240980

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AN - SCOPUS:85199241723

SN - 0022-1007

VL - 221

JO - Journal of Experimental Medicine

JF - Journal of Experimental Medicine

IS - 9

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PTPN2 deficiency: Amping up JAK/STAT

Abstract

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