Varaico: Literature-Extracted Genetic Variants

Gene:SOCS1
Variant:p.M161fs
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SOCS1

NM_003745.2:p.M161fs

Associated Papers

Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study.

Hadjadj J et al.

The Lancet. Rheumatology, 2025

Case Report: Common variable immunodeficiency phenotype and granulomatous-lymphocytic interstitial lung disease with a novel SOCS1 variant.

Caldirola MS et al.

Frontiers in Pediatrics, 2024

IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency.

Gruber C et al.

Journal of Clinical Immunology, 2023

Phenotypic Variability of SOCS1 Haploinsufficiency.

Hale RC et al.

Journal of Clinical Immunology, 2023

SOCS, SPRED, and NR4a: Negative regulators of cytokine signaling and transcription in immune tolerance.

Yoshimura A et al.

Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2021

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.

Körholz J et al.

Frontiers in Immunology, 2021

Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Hadjadj J et al.

Nature Communications, 2020

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED et al.

Nature, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."