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), 277-285, 2001 | 945 | 2001 |
2016 classification criteria for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a European League Against Rheumatism/American College of … A Ravelli, F Minoia, S Davì, AC Horne, F Bovis, A Pistorio, M Aricò, ... Arthritis & rheumatology 68 (3), 566-576, 2016 | 882 | 2016 |
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 |
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 | 818 | 2010 |
Early-onset stroke and vasculopathy associated with mutations in ADA2 Q Zhou, D Yang, AK Ombrello, AV Zavialov, C Toro, AV Zavialov, ... New England Journal of Medicine 370 (10), 911-920, 2014 | 815 | 2014 |
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity Y Minegishi, M Saito, T Morio, K Watanabe, K Agematsu, S Tsuchiya, ... Immunity 25 (5), 745-755, 2006 | 810 | 2006 |
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 | 765 | 1997 |
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage I Angulo, O Vadas, F Garçon, E Banham-Hall, V Plagnol, TR Leahy, ... Science 342 (6160), 866-871, 2013 | 643 | 2013 |
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99 C Antoine, S Müller, A Cant, M Cavazzana-Calvo, P Veys, J Vossen, ... The Lancet 361 (9357), 553-560, 2003 | 641 | 2003 |
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study TI Coulter, A Chandra, CM Bacon, J Babar, J Curtis, N Screaton, ... Journal of Allergy and Clinical Immunology 139 (2), 597-606. e4, 2017 | 553 | 2017 |
C1 inhibitor deficiency: consensus document MM Gompels, RJ Lock, M Abinun, CA Bethune, G Davies, C Grattan, ... Clinical & Experimental Immunology 139 (3), 379-394, 2005 | 541 | 2005 |
The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity MG Seidel, G Kindle, B Gathmann, I Quinti, M Buckland, J van Montfrans, ... The Journal of Allergy and Clinical Immunology: In Practice 7 (6), 1763-1770, 2019 | 479 | 2019 |
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL C Sobacchi, A Frattini, MM Guerrini, M Abinun, A Pangrazio, L Susani, ... Nature genetics 39 (8), 960-962, 2007 | 458 | 2007 |
V(D)J recombination defects in lymphocytes due toRAG mutations: severe immunodeficiency with a spectrum of clinical presentations A Villa, C Sobacchi, LD Notarangelo, F Bozzi, M Abinun, TG Abrahamsen, ... Blood, The Journal of the American Society of Hematology 97 (1), 81-88, 2001 | 394 | 2001 |
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations MM Guerrini, C Sobacchi, B Cassani, M Abinun, SS Kilic, A Pangrazio, ... The American journal of human genetics 83 (1), 64-76, 2008 | 340 | 2008 |
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome C Woellner, EM Gertz, AA Schäffer, M Lagos, M Perro, EO Glocker, ... Journal of Allergy and Clinical Immunology 125 (2), 424-432. e8, 2010 | 339 | 2010 |
EULAR recommendations for vaccination in paediatric patients with rheumatic diseases MW Heijstek, LMO De Bruin, M Bijl, R Borrow, F Van Der Klis, I Koné-Paut, ... Annals of the rheumatic diseases 70 (10), 1704-1712, 2011 | 297 | 2011 |
Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis A Frattini, A Pangrazio, L Susani, C Sobacchi, M Mirolo, M Abinun, ... Journal of bone and mineral research 18 (10), 1740-1747, 2003 | 276 | 2003 |
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I A Meloni, M Furcas, F Cetani, C Marcocci, A Falorni, R Perniola, M Pura, ... The Journal of Clinical Endocrinology & Metabolism 93 (11), 4389-4397, 2008 | 234 | 2008 |
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease Q Zhou, X Yu, E Demirkaya, N Deuitch, D Stone, WL Tsai, HS Kuehn, ... Proceedings of the National Academy of Sciences 113 (36), 10127-10132, 2016 | 233 | 2016 |