| Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations D Schubert, C Bode, R Kenefeck, TZ Hou, JB Wing, A Kennedy, ... Nature medicine 20 (12), 1410-1416, 2014 | 870 | 2014 |
| 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 | 596 | 2017 |
| Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects C Schwab, A Gabrysch, P Olbrich, V Patiño, K Warnatz, D Wolff, ... Journal of Allergy and Clinical Immunology 142 (6), 1932-1946, 2018 | 379 | 2018 |
| The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency L Gámez-Díaz, D August, P Stepensky, S Revel-Vilk, MG Seidel, M Noriko, ... Journal of Allergy and Clinical Immunology 137 (1), 223-230, 2016 | 292 | 2016 |
| Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study F Barzaghi, LCA Hernandez, B Neven, S Ricci, ZY Kucuk, JJ Bleesing, ... Journal of Allergy and Clinical Immunology 141 (3), 1036-1049. e5, 2018 | 255 | 2018 |
| Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II A Enders, B Zieger, K Schwarz, A Yoshimi, C Speckmann, EM Knoepfle, ... Blood 108 (1), 81-87, 2006 | 231 | 2006 |
| Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency K Felgentreff, R Perez-Becker, C Speckmann, K Schwarz, K Kalwak, ... Clinical immunology 141 (1), 73-82, 2011 | 195 | 2011 |
| Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency S Fuchs, A Rensing-Ehl, C Speckmann, B Bengsch, A Schmitt-Graeff, ... The Journal of Immunology 188 (3), 1523-1533, 2012 | 183 | 2012 |
| X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis C Speckmann, K Lehmberg, MH Albert, RB Damgaard, M Fritsch, ... Clinical immunology 149 (1), 133-141, 2013 | 182 | 2013 |
| Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency A Hassan, C Booth, A Brightwell, Z Allwood, P Veys, K Rao, M Hönig, ... Blood, The Journal of the American Society of Hematology 120 (17), 3615-3624, 2012 | 179 | 2012 |
| The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis SFN Bode, S Ammann, W Al-Herz, M Bataneant, CC Dvorak, S Gehring, ... Haematologica 100 (7), 978, 2015 | 177 | 2015 |
| Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates M Schmidt, DA Carbonaro, C Speckmann, M Wissler, J Bohnsack, ... Nature medicine 9 (4), 463-468, 2003 | 160 | 2003 |
| PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia A Stray-Pedersen, PH Backe, HS Sorte, L Mørkrid, NY Chokshi, ... The American Journal of Human Genetics 95 (1), 96-107, 2014 | 158 | 2014 |
| Disease‐causing mutations in the XIAP BIR 2 domain impair NOD 2‐dependent immune signalling RB Damgaard, BK Fiil, C Speckmann, M Yabal, U Stadt, S Bekker‐Jensen, ... EMBO molecular medicine 5 (8), 1278-1295, 2013 | 150 | 2013 |
| Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases J Rohr, K Beutel, A Maul-Pavicic, T Vraetz, J Thiel, K Warnatz, I Bondzio, ... Haematologica 95 (12), 2080, 2010 | 130 | 2010 |
| Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation MT de la Morena, D Leonard, TR Torgerson, O Cabral-Marques, M Slatter, ... Journal of allergy and clinical immunology 139 (4), 1282-1292, 2017 | 128 | 2017 |
| Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells N Rieber, A Singh, H Öz, M Carevic, M Bouzani, J Amich, M Ost, Z Ye, ... Cell host & microbe 17 (4), 507-514, 2015 | 111 | 2015 |
| Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency M Elgizouli, DM Lowe, C Speckmann, D Schubert, J Hülsdünker, ... Clinical & Experimental Immunology 183 (2), 221-229, 2016 | 107 | 2016 |
| The German national registry of primary immunodeficiencies (2012–2017) SM El-Helou, AK Biegner, S Bode, SR Ehl, M Heeg, ME Maccari, ... Frontiers in immunology 10, 1272, 2019 | 98 | 2019 |
| Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome S Völkl, A Rensing-Ehl, A Allgäuer, E Schreiner, MR Lorenz, J Rohr, ... Blood, The Journal of the American Society of Hematology 128 (2), 227-238, 2016 | 94 | 2016 |
Stephan EhlCenter for Chronic Immunodeficiency, CIBSSVerified email at uniklinik-freiburg.de
