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Journal of Clinical Immunology|May 19, 2016
Hyper IgM Syndrome: a Report from the USIDNET RegistryEmily A Leven, Patrick Maffucci, Hans D Ochs, 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.Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|April 2, 2025
Effective long-term prophylaxis with lanadelumab in adolescents with hereditary angioedema: EMPOWER/ENABLERaffi Tachdjian, Aleena Banerji, Paula J Busse, 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.Pageof 32