Associated Papers
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
Immune Thrombocytopenia: Immune Dysregulation and Genetic Perturbations Deciphering the Fate of Platelets.
Tariq Z et al.
Frontiers in Bioscience (landmark Edition), 2024
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.
Rafati M et al.
Transplantation and Cellular Therapy, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.
Rayzan E et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome.
Taieb G et al.
Neurology(r) Neuroimmunology & Neuroinflammation, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Anakinra treatment in macrophage activation syndrome: a single center experience and systemic review of literature.
Sönmez HE et al.
Clinical Rheumatology, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.
Schulert GS et al.
Arthritis Care & Research, 2015
Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.
Rigante D et al.
Clinical Rheumatology, 2015
Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.
Ciambotti B et al.
Journal of Pediatric Hematology/oncology, 2014
Perforinopathy: a spectrum of human immune disease caused by defective perforin delivery or function.
Voskoboinik I et al.
Frontiers in Immunology, 2013
Human perforin mutations and susceptibility to multiple primary cancers.
Trapani JA et al.
Oncoimmunology, 2013
Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.
Vastert SJ et al.
Rheumatology (oxford, England), 2010