Associated Papers
Autoimmune hepatitis and immune dysregulation: A case series.
Jannone G et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2025
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD.
Delmonte OM et al.
Journal of Clinical Immunology, 2020
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency.
Marquardsen FA et al.
Journal of Clinical Immunology, 2017
Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110.
Wang T et al.
Clinical Immunology (orlando, Fla.), 2012
Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.
Cliffe ST et al.
The Journal of Allergy and Clinical Immunology, 2012
The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110.
Cliffe ST et al.
Prenatal Diagnosis, 2007
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
Roscioli T et al.
Nature Genetics, 2006
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