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The Journal of Clinical Investigation|November 6, 2018
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficienciesPatrick Maffucci, Jose Chavez, Thomas J Jurkiw, et al.Journal of Clinical Immunology|February 13, 2020
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical ClassificationAziz Bousfiha, Leila Jeddane, Capucine Picard, et al.Clinical Immunology (Orlando, Fla.)|January 10, 2002
Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatmentUlrike H M Ziegner, Roger H Kobayashi, Charlotte Cunningham-Rundles, et al.Journal of Clinical Immunology|August 20, 2020
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.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.Acta Neurologica Belgica|October 28, 2022
Reasons for re-hospitalization in patients with tuberculous meningitis, and its impact on outcome: a prospective observational studyManish Ramesh Patil, Imran Rizvi, Ravindra Kumar Garg, 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.Pageof 29