| Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease M Cavazzana-Calvo, S Hacein-Bey, G de Saint Basile, F Gross, E Yvon, ... Science 288 (5466), 669-672, 2000 | 3006 | 2000 |
| X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy RS Wildin, F Ramsdell, J Peake, F Faravelli, JL Casanova, N Buist, ... Nature genetics 27 (1), 18, 2001 | 1829 | 2001 |
| GENETIC DISSECTION OF IMMUNITY TO MYCOBACTERIA: The Human Model JL Casanova, L Abel Annual review of immunology 20 (1), 581-620, 2002 | 1038 | 2002 |
| Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors J Cros, N Cagnard, K Woollard, N Patey, SY Zhang, B Senechal, A Puel, ... Immunity 33 (3), 375-386, 2010 | 967 | 2010 |
| Interferon-γ–receptor deficiency in an infant with fatal bacille Calmette–Guérin infection E Jouanguy, F Altare, S Lamhamedi, P Revy, JF Emile, M Newport, ... New England Journal of Medicine 335 (26), 1956-1962, 1996 | 936 | 1996 |
| TLR3 deficiency in patients with herpes simplex encephalitis SY Zhang, E Jouanguy, S Ugolini, A Smahi, G Elain, P Romero, D Segal, ... science 317 (5844), 1522-1527, 2007 | 930 | 2007 |
| Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency F Altare, A Durandy, D Lammas, JF Emile, S Lamhamedi, F Le Deist, ... Science 280 (5368), 1432-1435, 1998 | 913 | 1998 |
| Pyogenic bacterial infections in humans with IRAK-4 deficiency C Picard, A Puel, M Bonnet, CL Ku, J Bustamante, K Yang, C Soudais, ... Science 299 (5615), 2076-2079, 2003 | 891 | 2003 |
| Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients R de Jong, F Altare, IA Haagen, DG Elferink, T de Boer, ... Science 280 (5368), 1435-1438, 1998 | 879 | 1998 |
| Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity A Puel, S Cypowyj, J Bustamante, JF Wright, L Liu, HK Lim, M Migaud, ... Science 332 (6025), 65-68, 2011 | 789 | 2011 |
| X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling R Döffinger, A Smahi, C Bessia, F Geissmann, J Feinberg, A Durandy, ... Nature genetics 27 (3), 277, 2001 | 774 | 2001 |
| Human blood IgM “memory” B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire S Weller, MC Braun, BK Tan, A Rosenwald, C Cordier, ME Conley, ... Blood 104 (12), 3647-3654, 2004 | 750 | 2004 |
| Pyogenic bacterial infections in humans with MyD88 deficiency H Von Bernuth, C Picard, Z Jin, R Pankla, H Xiao, CL Ku, M Chrabieh, ... Science 321 (5889), 691-696, 2008 | 687 | 2008 |
| Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency S Dupuis, E Jouanguy, S Al-Hajjar, C Fieschi, IZ Al-Mohsen, S Al-Jumaah, ... Nature genetics 33 (3), 388, 2003 | 672 | 2003 |
| Herpes simplex virus encephalitis in human UNC-93B deficiency A Casrouge, SY Zhang, C Eidenschenk, E Jouanguy, A Puel, K Yang, ... Science 314 (5797), 308-312, 2006 | 665 | 2006 |
| Interleukin-36–receptor antagonist deficiency and generalized pustular psoriasis S Marrakchi, P Guigue, BR Renshaw, A Puel, XY Pei, S Fraitag, J Zribi, ... New England Journal of Medicine 365 (7), 620-628, 2011 | 646 | 2011 |
| Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I A Puel, R Döffinger, A Natividad, M Chrabieh, G Barcenas-Morales, ... Journal of Experimental Medicine 207 (2), 291-297, 2010 | 566 | 2010 |
| Efficacy of gene therapy for X-linked severe combined immunodeficiency S Hacein-Bey-Abina, J Hauer, A Lim, C Picard, GP Wang, CC Berry, ... New England Journal of Medicine 363 (4), 355-364, 2010 | 565 | 2010 |
| Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis L Liu, S Okada, XF Kong, AY Kreins, S Cypowyj, A Abhyankar, J Toubiana, ... Journal of Experimental Medicine 208 (8), 1635-1648, 2011 | 550 | 2011 |
| Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 C Picard, W Al-Herz, A Bousfiha, JL Casanova, T Chatila, ME Conley, ... Journal of clinical immunology 35 (8), 696-726, 2015 | 547 | 2015 |