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Journal of Human Immunity|January 30, 2026
A heterozygous USB1 variant linked to immunodeficiencyAlice Valagussa, Nidia Moreno-Corona, Chantal Lagresle-Peyrou, et al.Journal of Immunology (Baltimore, Md. : 1950)|January 18, 2012
Human MSH6 deficiency is associated with impaired antibody maturationPauline Gardès, Monique Forveille, Marie-Alexandra Alyanakian, et al.Journal of Biomedical Informatics|July 30, 2017
Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stackNicolas Garcelon, Antoine Neuraz, Vincent Benoit, et al.Clinical Immunology (Orlando, Fla.)|November 2, 2025
Natural history of clinical manifestations in activated phosphoinositide 3-kinase δ syndrome (APDS): Time-to-event analyses using the European Society for Immunodeficiencies-APDS registryMaria Elena Maccari, Sven Kracker, Anita Chandra, et al.The Journal of Clinical Investigation|August 19, 2014
A human immunodeficiency caused by mutations in the PIK3R1 geneMarie-Céline Deau, Lucie Heurtier, Pierre Frange, et al.Molecular Therapy. Methods & Clinical Development|December 28, 2023
Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correctionLucie Poggi, Loïc Chentout, Sabrina Lizot, et al.Frontiers in Immunology|November 15, 2021
UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH LocusIman Dalloul, Brice Laffleur, Zeinab Dalloul, et al.Clinical and Experimental Immunology|December 14, 2024
Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): an externally controlled studyJohn Whalen, Anita Chandra, Sven Kracker, et al.Frontiers in Immunology|May 15, 2025
Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registryMaria Pia Esposto, Nizar Mahlaoui, Hassan Abolhassani, et al.The Journal of Experimental Medicine|June 22, 2026
The transcription factor IRF8 drives tumor-specific exhaustion in CD8+ T cellsMarco Ongaro, Romane Thouenon, Isaac Crespo, et al.Pageof 6