Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Drabe CH et al.
Journal of Clinical Immunology, 2025
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E et al.
The Journal of Experimental Medicine, 2024
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
Consonni F et al.
Cell Death & Disease, 2024
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
Palmisani E et al.
Hemasphere, 2023
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
The genetic landscape of the FAS pathway deficiencies.
Magerus A et al.
Biomedical Journal, 2021
Possible link of genetic variants to autoimmunity in GAD-antibody-associated neurological disorders.
Thaler FS et al.
Journal of the Neurological Sciences, 2020
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Miano M et al.
British Journal of Haematology, 2019
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
Whole exome sequencing of patients who resolved Crohn's disease and complex regional pain syndrome following treatment for paratuberculosis.
Todd Kuenstner J et al.
Gut Pathogens, 2019
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.
Rieux-Laucat F et al.
Journal of Clinical Immunology, 2018
Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.
Martínez-Feito A et al.
Immunobiology, 2016
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.
Tadaki H et al.
International Journal of Immunogenetics, 2011
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.
Isokpehi RD et al.
Bioinformatics and Biology Insights, 2010
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.
Cerutti E et al.
Bmc Immunology, 2007
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Zhu S et al.
Human Genetics, 2006
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.
Campagnoli MF et al.
Haematologica, 2006
Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas.
Shin MS et al.
Blood, 2002
Inactivating mutations of the caspase-10 gene in gastric cancer.
Park WS et al.
Oncogene, 2002