Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations.

doi:10.1007/s10875-025-01958-z

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Article

Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations.

Journal of clinical immunology - 18 Nov 2025

Palmeri Serena, Prigione Ignazia, Schena Francesca, Jeanpierre Marie, Bertoni Arinna, Penco Federica, Bocca Paola, Del Zotto Genny, Massucco Sara, Venturi Consuelo, Schenone Angelo, Tripodi Gino, Recchi Giada, Lanciotti Marina, Miano Maurizio, Matucci-Cerinic Caterina, Viglizzo Gianmaria, Papa Riccardo, Rieux-Laucat Frédéric, Caorsi Roberta, Gattorno Marco, Volpi Stefano

Abstract excerpt

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 have been linked to...

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PMID: 41249727
DOI: 10.1007/s10875-025-01958-z
PMCID: PMC12628480

Genes

SOCS1
STAT1

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