One gene to rule them all - clinical perspectives of a potent suppressor of cytokine signaling - SOCS1.
Front Immunol
; 15: 1385190, 2024.
Article
en En
| MEDLINE
| ID: mdl-38711523
ABSTRACT
The discovery of Suppressor of Cytokine Signaling 1 (SOCS1) in 1997 marked a significant milestone in understanding the regulation of Janus kinase/Signal transducer and activator of transcription (JAK/STAT) signaling pathways. Subsequent research deciphered its cellular functions, and recent insights into SOCS1 deficiencies in humans underscored its critical role in immune regulation. In humans, SOCS-haploinsufficiency (SOCS1-HI) presents a diverse clinical spectrum, encompassing autoimmune diseases, infection susceptibility, and cancer. Variability in disease manifestation, even within families sharing the same genetic variant, raises questions about clinical penetrance and the need for individualized treatments. Current therapeutic strategies include JAK inhibition, with promising results in controlling inflammation in SOCS1-HI patients. Hematopoietic stem cell transplantation and gene therapy emerge as promising avenues for curative treatments. The evolving landscape of SOCS1 research, emphasizes the need for a nuanced understanding of genetic variants and their functional consequences.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Transducción de Señal
/
Proteína 1 Supresora de la Señalización de Citocinas
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Front Immunol
/
Front. immunol
/
Frontiers in immunology
Año:
2024
Tipo del documento:
Article
País de afiliación:
Alemania