TY - JOUR
T1 - STAT3 gain-of-function syndrome
AU - Vogel, Tiphanie P.
AU - Leiding, Jennifer W.
AU - Cooper, Megan A.
AU - Forbes Satter, Lisa R.
N1 - Publisher Copyright:
2023 Vogel, Leiding, Cooper and Forbes Satter.
PY - 2023/2/9
Y1 - 2023/2/9
N2 - STAT3 gain-of-function (GOF) syndrome is a multi-organ primary immune regulatory disorder characterized by early onset autoimmunity. Patients present early in life, most commonly with lymphoproliferation, autoimmune cytopenias, and growth delay. However, disease is often progressive and can encompass a wide range of clinical manifestations such as: enteropathy, skin disease, pulmonary disease, endocrinopathy, arthritis, autoimmune hepatitis, and rarely neurologic disease, vasculopathy, and malignancy. Treatment of the autoimmune and immune dysregulatory features of STAT3-GOF patients relies heavily on immunosuppression and is often challenging and fraught with complications including severe infections. Defects in the T cell compartment leading to effector T cell accumulation and decreased T regulatory cells may contribute to autoimmunity. While T cell exhaustion and apoptosis defects likely contribute to the lymphoproliferative phenotype, no conclusive correlations are yet established. Here we review the known mechanistic and clinical characteristics of this heterogenous PIRD.
AB - STAT3 gain-of-function (GOF) syndrome is a multi-organ primary immune regulatory disorder characterized by early onset autoimmunity. Patients present early in life, most commonly with lymphoproliferation, autoimmune cytopenias, and growth delay. However, disease is often progressive and can encompass a wide range of clinical manifestations such as: enteropathy, skin disease, pulmonary disease, endocrinopathy, arthritis, autoimmune hepatitis, and rarely neurologic disease, vasculopathy, and malignancy. Treatment of the autoimmune and immune dysregulatory features of STAT3-GOF patients relies heavily on immunosuppression and is often challenging and fraught with complications including severe infections. Defects in the T cell compartment leading to effector T cell accumulation and decreased T regulatory cells may contribute to autoimmunity. While T cell exhaustion and apoptosis defects likely contribute to the lymphoproliferative phenotype, no conclusive correlations are yet established. Here we review the known mechanistic and clinical characteristics of this heterogenous PIRD.
KW - STAT3
KW - autoimmune cytopenia
KW - early onset autoimmunity
KW - immune dysregulation
KW - lymphoproliferation
UR - http://www.scopus.com/inward/record.url?scp=85148599081&partnerID=8YFLogxK
U2 - 10.3389/fped.2022.770077
DO - 10.3389/fped.2022.770077
M3 - Short survey
C2 - 36843887
AN - SCOPUS:85148599081
SN - 2296-2360
VL - 10
JO - Frontiers in Pediatrics
JF - Frontiers in Pediatrics
M1 - 770077
ER -