| Autoantibodies against type I IFNs in patients with life-threatening COVID-19 P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ... Science 370 (6515), eabd4585, 2020 | 2489 | 2020 |
| Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ... Science 370 (6515), eabd4570, 2020 | 2166 | 2020 |
| Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2) P Revy, T Muto, Y Levy, F Geissmann, A Plebani, O Sanal, N Catalan, ... Cell 102 (5), 565-575, 2000 | 1960 | 2000 |
| Diagnostic criteria for primary immunodeficiencies ME Conley, LD Notarangelo, A Etzioni Clinical immunology 93 (3), 190-197, 1999 | 1418 | 1999 |
| Gene therapy for immunodeficiency due to adenosine deaminase deficiency A Aiuti, F Cattaneo, S Galimberti, U Benninghoff, B Cassani, L Callegaro, ... New England Journal of Medicine 360 (5), 447-458, 2009 | 1152 | 2009 |
| The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM J Sayos, C Wu, M Morra, N Wang, X Zhang, D Allen, S Van Schaik, ... Nature 395 (6701), 462-469, 1998 | 1096 | 1998 |
| Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID) P Macchi, A Villa, S Giliani, MG Sacco, A Frattini, F Porta, AG Ugazio, ... Nature 377 (6544), 65-68, 1995 | 1044 | 1995 |
| Gene therapy in peripheral blood lymphocytes and bone marrow for ADA− immunodeficient patients C Bordignon, LD Notarangelo, N Nobili, G Ferrari, G Casorati, P Panina, ... Science 270 (5235), 470-475, 1995 | 994 | 1995 |
| Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 HS Kuehn, W Ouyang, B Lo, EK Deenick, JE Niemela, DT Avery, ... Science 345 (6204), 1623-1627, 2014 | 889 | 2014 |
| Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM U Korthäuer, D Graf, HW Mages, F Brière, M Padayachee, S Malcolm, ... Nature 361 (6412), 539-541, 1993 | 878 | 1993 |
| Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis A Frattini, PJ Orchard, C Sobacchi, S Giliani, M Abinun, JP Mattsson, ... Nature genetics 25 (3), 343-346, 2000 | 820 | 2000 |
| Clinical spectrum of X-linked hyper-IgM syndrome J Levy, T Espanol-Boren, C Thomas, A Fischer, P Tovo, P Bordigoni, ... The Journal of pediatrics 131 (1), 47-54, 1997 | 762 | 1997 |
| Transplantation outcomes for severe combined immunodeficiency, 2000–2009 SY Pai, BR Logan, LM Griffith, RH Buckley, RE Parrott, CC Dvorak, ... New England Journal of Medicine 371 (5), 434-446, 2014 | 747 | 2014 |
| Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States A Kwan, RS Abraham, R Currier, A Brower, K Andruszewski, JK Abbott, ... Jama 312 (7), 729-738, 2014 | 725 | 2014 |
| Primary immunodeficiencies LD Notarangelo Journal of Allergy and Clinical Immunology 125 (2), S182-S194, 2010 | 687 | 2010 |
| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 681 | 2019 |
| Primary immunodeficiencies: 2009 update LD Notarangelo, A Fischer, RS Geha, JL Casanova, H Chapel, ... Journal of Allergy and Clinical Immunology 124 (6), 1161-1178, 2009 | 659 | 2009 |
| Primary immunodeficiency diseases: an update from the international union of immunological societies primary immunodeficiency diseases classification committee RS Geha, LD Notarangelo, JL Casanova, H Chapel, ME Conley, ... Journal of Allergy and Clinical Immunology 120 (4), 776-794, 2007 | 641 | 2007 |
| Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency W Al-Herz, A Bousfiha, JL Casanova, H Chapel, ME Conley, ... Frontiers in immunology 2, 54, 2011 | 564 | 2011 |
| X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill … S Parolini, C Bottino, M Falco, R Augugliaro, S Giliani, R Franceschini, ... The Journal of experimental medicine 192 (3), 337-346, 2000 | 546 | 2000 |
