Centre de Référence Déficits Immunitaires Héréditaires

Recent papers from Centre de Référence Déficits Immunitaires Héréditaires

1. Pathways to progress: navigating the evolving field of PIDs and associated conditions — proceedings from the IPOPI Global Multi-Stakeholders’ Summit (July 2025)Frontiers in Immunology · 2026
2. Patient representation from clinical narratives for early diagnosis of rare diseases: a comparative study on Activated PI3K-δ Syndrome2026
3. Appraisal of primary immunodeficiencies in Latin America and the Caribbean using the IPOPI PID Life Index – where are we now?Frontiers in Immunology · 2026
4. Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosisThe Journal of Experimental Medicine · 2026
5. Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic PitfallAnnals of Clinical and Translational Neurology · 2026
6. Incidental maternal glutaric aciduria type I detection through newborn screening: A case reportMolecular Genetics and Metabolism Reports · 2026
7. Evaluation of Cell Mimics as Potential Quality Controls for Human Leukocyte ImmunophenotypingMedical Sciences · 2025
8. Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver diseaseJournal of Human Immunity · 2025
9. A heterozygous USB1 variant linked to immunodeficiencyJournal of Human Immunity · 2025
10. Comorbidities in Mild WAS/XLT Require Lifelong Follow‐Up and Consideration of Definitive TreatmentAmerican Journal of Hematology · 2025
11. Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity2025
12. Factors associated with and kinetics of anti–IFN-α autoantibodies in RAG1/2 deficiencyJournal of Allergy and Clinical Immunology Global · 2025
13. Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten yearsFrontiers in Immunology · 2025
14. Expanding the phenotypic and genetic landscape of congenital neutropenia through whole‐exome and genome sequencingHemaSphere · 2025
15. The impact of allogeneic hematopoietic stem cell transplantation on pulmonary complications in adults with inborn errors of immunityJournal of Allergy and Clinical Immunology · 2025
16. Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registryFrontiers in Immunology · 2025
17. Diagnosis, Characteristics, and Outcome of Selective Anti-polysaccharide Antibody Deficiencies In A Retrospective Cohort of 55 Adult PatientsJournal of Clinical Immunology · 2025
18. HLA-haploidentical stem cell transplantation for chronic granulomatous disease: an EBMT-IEWP retrospective studyBlood · 2025
19. Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort studyOrphanet Journal of Rare Diseases · 2025
20. Inborn errors of immunity: manifestation, treatment, and outcome – an ESID registry 1994-2024 report on 30,628 patients2025