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Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.Journal of Clinical Immunology|September 9, 2020
Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody DeficiencyHye Sun Kuehn, Andrea Bernasconi, Julie E Niemela, et al.Journal of Clinical Immunology|October 21, 2015
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015Capucine Picard, Waleed Al-Herz, Aziz Bousfiha, et al.Frontiers in Immunology|May 9, 2012
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiencyWaleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, et al.The Journal of Allergy and Clinical Immunology|November 8, 2017
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutationsAlexander Vargas-Hernández, Emily M Mace, Ofer Zimmerman, et al.The Journal of Allergy and Clinical Immunology|June 24, 2018
Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responsesNeil Romberg, Carole Le Coz, Salomé Glauzy, et al.Journal of Clinical Immunology|May 10, 2013
A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedsideAhmed Aziz Bousfiha, Leïla Jeddane, Fatima Ailal, et al.The Journal of Allergy and Clinical Immunology|February 14, 2015
Rare variants at 16p11.2 are associated with common variable immunodeficiencyS Melkorka Maggadottir, Jin Li, Joseph T Glessner, et al.Journal of Clinical Immunology|December 12, 2017
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of ImmunityCapucine Picard, H Bobby Gaspar, Waleed Al-Herz, et al.Journal of Clinical Immunology|October 9, 2015
The 2015 IUIS Phenotypic Classification for Primary ImmunodeficienciesAziz Bousfiha, Leïla Jeddane, Waleed Al-Herz, et al.Pageof 25