TY - JOUR
T1 - Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity
T2 - Lessons from Patients and Mouse Models of Disease
AU - Toth, Kelsey A.
AU - Schmitt, Erica G.
AU - Cooper, Megan A.
N1 - Funding Information:
This work was supported in part by the National Institutes of Health/National Institute of Allergy and Infectious Diseases Grants P01 AI155393 and R21 AI168957 (to M.A.C.). E.G.S. was supported by National Institutes of Health Grant K12HD076224 and by a Rheumatic Diseases Research Resource-Based
Funding Information:
This work was supported in part by the National Institutes of Health/National Institute of Allergy and Infectious Diseases Grants P01 AI155393 and R21 AI168957 (to M.A.C.). E.G.S. was supported by National Institutes of Health Grant K12HD076224 and by a Rheumatic Diseases Research Resource-Based Center at Washington University Pilot and Feasibility Grant through National Institutes of Health Grant P30AR073752.
Publisher Copyright:
Copyright © 2023 by The American Association of Immunologists, Inc. 0022-1767/23/$37.50.
PY - 2023/5/15
Y1 - 2023/5/15
N2 - The STAT family proteins provide critical signals for immune cell development, differentiation, and proinflammatory and anti-inflammatory responses. Inborn errors of immunity (IEIs) are caused by single gene defects leading to immune deficiency and/or dysregulation, and they have provided opportunities to identify genes important for regulating the human immune response. Studies of patients with IEIs due to altered STAT signaling, and mouse models of these diseases, have helped to shape current understanding of the mechanisms whereby STAT signaling and protein interactions regulate immunity. Although many STAT signaling pathways are shared, clinical and immune phenotypes in patients with monogenic defects of STAT signaling highlight both redundant and nonredundant pathways. In this review, we provide an overview of the shared and unique signaling pathways used by STATs, phenotypes of IEIs with altered STAT signaling, and recent discoveries that have provided insight into the human immune response and treatment of disease.
AB - The STAT family proteins provide critical signals for immune cell development, differentiation, and proinflammatory and anti-inflammatory responses. Inborn errors of immunity (IEIs) are caused by single gene defects leading to immune deficiency and/or dysregulation, and they have provided opportunities to identify genes important for regulating the human immune response. Studies of patients with IEIs due to altered STAT signaling, and mouse models of these diseases, have helped to shape current understanding of the mechanisms whereby STAT signaling and protein interactions regulate immunity. Although many STAT signaling pathways are shared, clinical and immune phenotypes in patients with monogenic defects of STAT signaling highlight both redundant and nonredundant pathways. In this review, we provide an overview of the shared and unique signaling pathways used by STATs, phenotypes of IEIs with altered STAT signaling, and recent discoveries that have provided insight into the human immune response and treatment of disease.
UR - http://www.scopus.com/inward/record.url?scp=85158054717&partnerID=8YFLogxK
U2 - 10.4049/jimmunol.2200905
DO - 10.4049/jimmunol.2200905
M3 - Review article
C2 - 37126806
AN - SCOPUS:85158054717
SN - 0022-1767
VL - 210
SP - 1463
EP - 1472
JO - Journal of Immunology
JF - Journal of Immunology
IS - 10
ER -