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 | 890 | 2011 |
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 | 818 | 2006 |
Commensal bacteria-derived signals regulate basophil hematopoiesis and allergic inflammation DA Hill, MC Siracusa, MC Abt, BS Kim, D Kobuley, M Kubo, ... Nature medicine, 2012 | 539 | 2012 |
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients from 167 kindreds J Toubiana, S Okada, J Hiller, M Oleastro, ML Gomez, JCA Becerra, ... Blood, blood-2015-11-679902, 2016 | 512 | 2016 |
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, 2019 | 500 | 2019 |
Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients A Jansson, ED Renner, J Ramser, A Mayer, M Haban, A Meindl, V Grote, ... Rheumatology 46 (1), 154-160, 2006 | 490 | 2006 |
Genetic linkage of hyper-IgE syndrome to chromosome 4 B Grimbacher, AA Schäffer, SM Holland, J Davis, JI Gallin, HL Malech, ... The American Journal of Human Genetics 65 (3), 735-744, 1999 | 475 | 1999 |
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity ED Renner, JM Puck, SM Holland, M Schmitt, M Weiss, M Frosch, ... The Journal of pediatrics 144 (1), 93-99, 2004 | 375 | 2004 |
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome ED Renner, S Rylaarsdam, S Aňover-Sombke, AL Rack, J Reichenbach, ... Journal of Allergy and Clinical Immunology 122 (1), 181-187, 2008 | 354 | 2008 |
DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients SE Aydin, SS Kilic, C Aytekin, A Kumar, O Porras, L Kainulainen, ... Journal of clinical immunology 35 (2), 189-198, 2015 | 305 | 2015 |
Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response S Stojanov, F Hoffmann, A Kéry, ED Renner, D Hartl, P Lohse, K Huss, ... European cytokine network 17 (2), 90-97, 2006 | 205 | 2006 |
Comel-Netherton syndrome defined as primary immunodeficiency ED Renner, D Hartl, S Rylaarsdam, ML Young, L Monaco-Shawver, ... Journal of Allergy and Clinical Immunology 124 (3), 536-543, 2009 | 194 | 2009 |
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis LF Schimke, J Sawalle-Belohradsky, J Roesler, A Wollenberg, A Rack, ... Journal of allergy and clinical immunology 126 (3), 611-617. e1, 2010 | 193 | 2010 |
PATIENT-CENTRED SCREENING FOR PRIMARY IMMUNODEFICIENCY, A MULTI-STAGE DIAGNOSTIC PROTOCOL DESIGNED FOR NONIMMUNOLOGISTS&58; 2011 UPDATE E de Vries, AA Cardona, AHA Latiff, R Badolato, N Brodszki, AJ Cant, ... Medicinskaâ Immunologiâ 15 (5), 477-492, 2013 | 192* | 2013 |
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies IJ Nijman, JM van Montfrans, M Hoogstraat, ML Boes, L van de Corput, ... Journal of Allergy and Clinical Immunology 133 (2), 529-534. e1, 2014 | 190 | 2014 |
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency MC Mizesko, PP Banerjee, L Monaco-Shawver, EM Mace, WE Bernal, ... Journal of Allergy and Clinical Immunology 131 (3), 840-848, 2013 | 159 | 2013 |
Atopic dermatitis, STAT3‐and DOCK8‐hyper‐IgE syndromes differ in IgE‐based sensitization pattern AC Boos, B Hagl, A Schlesinger, BE Halm, N Ballenberger, M Pinarci, ... Allergy 69 (7), 943-953, 2014 | 122 | 2014 |
Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation TC Bittner, U Pannicke, ED Renner, G Notheis, F Hoffmann, ... Klinische Pädiatrie 222 (06), 351-355, 2010 | 102 | 2010 |
STAT3 mutation in the original patient with Job's syndrome ED Renner, TR Torgerson, S Rylaarsdam, S Añover-Sombke, K Golob, ... New England Journal of Medicine 357 (16), 1667-1668, 2007 | 92 | 2007 |
Stat3 Programs Th17-Specific Regulatory T Cells to Control GN MA Kluger, M Luig, C Wegscheid, B Goerke, HJ Paust, SR Brix, I Yan, ... Journal of the American Society of Nephrology, ASN. 2013080904, 2014 | 81 | 2014 |