Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations
J Clin Immunol. 2025 Nov 18;45(1):165. doi: 10.1007/s10875-025-01958-z. ABSTRACT Suppressor of cytokine signaling 1 (SOCS1) haploinsufficiency is a recently described inborn error of immunity characterized by autoimmunity, inflammation, lymphoproliferation, and increased infection susceptibility. SOCS1, a negative regulator of cytokine signaling via the JAK/STAT pathway, explains the condition’s broad phenotypic variability. Single nucleotide polymorphisms in SOCS1 … Read more