Associated Papers
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.
Xu X et al.
Journal of Clinical Immunology, 2024
TP53 and KMT2D mutations associated with worse prognosis in peripheral T-cell lymphomas.
Wang L et al.
Cancer Medicine, 2024
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Segura-Tudela A et al.
Journal of Clinical Immunology, 2024
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Pellé O et al.
The Journal of Allergy and Clinical Immunology, 2024
Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.
Paskiewicz A et al.
Autoimmunity Reviews, 2023
Nature and nurture: understanding phenotypic variation in inborn errors of immunity.
Similuk M et al.
Frontiers in Cellular and Infection Microbiology, 2023
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Rawat A et al.
Scientific Reports, 2022
Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.
Batlle-Masó L et al.
Frontiers in Immunology, 2022
Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review.
Hafezi N et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021
Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.
López-Nevado M et al.
Frontiers in Immunology, 2021
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K et al.
Frontiers in Immunology, 2021
Case Report: Autoimmune Lymphoproliferative Syndrome vs. Chronic Active Epstein-Barr Virus Infection in Children: A Diagnostic Challenge.
Szczawińska-Popłonyk A et al.
Frontiers in Pediatrics, 2021
Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.
Jeong S et al.
Scientific Reports, 2020
Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.
Boot A et al.
Genome Research, 2020
An updated review on phenocopies of primary immunodeficiency diseases.
Singh A et al.
Genes & Diseases, 2020
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
The expanding spectrum of the autoimmune lymphoproliferative syndromes.
Oliveira JB
Current Opinion in Pediatrics, 2013
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.
Lambotte O et al.
Haematologica, 2013
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.
Neven B et al.
Blood, 2011
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
Kuehn HS et al.
Journal of Immunology (baltimore, Md. : 1950), 2011