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Nature|May 30, 2014
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferationEmmanuel Martin, Noé Palmic, Sylvia Sanquer, et al.Pediatrics|June 4, 2002
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his motherSophie Dupuis-Girod, Nadège Corradini, Smail Hadj-Rabia, et al.The New England Journal of Medicine|April 19, 2002
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapySalima Hacein-Bey-Abina, Françoise Le Deist, Frédérique Carlier, et al.Blood|September 22, 2005
Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicityChantal Lagresle-Peyrou, Frank Yates, Michèle Malassis-Séris, et al.Human Mutation|November 1, 2012
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutationsHouda Mokrani-Benhelli, Laetitia Gaillard, Patricia Biasutto, et al.Journal of Clinical Immunology|June 25, 2020
Correction to: A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary ImmunodeficiencyHélène Coignard-Biehler, Nizar Mahlaoui, Benoit Pilmis, et al.The Journal of Experimental Medicine|December 12, 2012
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")Jana Pachlopnik Schmid, Roxane Lemoine, Nadine Nehme, et al.The Journal of Allergy and Clinical Immunology|October 15, 2014
An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complexSven Kracker, Michela Di Virgilio, Jeremy Schwartzentruber, et al.The Journal of Allergy and Clinical Immunology|March 26, 2013
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferationDespina Moshous, Emmanuel Martin, Wassila Carpentier, et al.Frontiers in Immunology|September 1, 2023
The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities - proceedings from the IPOPI global multi-stakeholders' summit (June 2022)Susan Tadros, Johan Prévot, Isabelle Meyts, et al.Pageof 44