| Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27 E Salzer, S Daschkey, S Choo, M Gombert, E Santos-Valente, S Ginzel, ... haematologica 98 (3), 473, 2013 | 189 | 2013 |
| Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency E Salzer, A Kansu, H Sic, P Májek, A Ikincioğullari, FE Dogu, ... Journal of Allergy and Clinical Immunology 133 (6), 1651-1659. e12, 2014 | 156 | 2014 |
| B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ E Salzer, E Santos-Valente, S Klaver, SA Ban, W Emminger, ... Blood, The Journal of the American Society of Hematology 121 (16), 3112-3116, 2013 | 147 | 2013 |
| Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity KL Willmann, S Klaver, F Doğu, E Santos-Valente, W Garncarz, I Bilic, ... Nature communications 5 (1), 5360, 2014 | 143 | 2014 |
| JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia K Boztug, PM Järvinen, E Salzer, T Racek, S Mönch, W Garncarz, ... Nature genetics 46 (9), 1021-1027, 2014 | 141 | 2014 |
| RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics E Salzer, D Cagdas, M Hons, EM Mace, W Garncarz, ÖY Petronczki, ... Nature immunology 17 (12), 1352-1360, 2016 | 133 | 2016 |
| Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency S Ghosh, S Köstel Bal, ESJ Edwards, B Pillay, R Jiménez Heredia, ... Blood, The Journal of the American Society of Hematology 136 (23), 2638-2655, 2020 | 87 | 2020 |
| Investigation of genetic defects in severe combined immunodeficiency patients from Turkey by targeted sequencing B Erman, I Bilic, T Hirschmugl, E Salzer, H Boztug, Ö Sanal, ... Scandinavian journal of immunology 85 (3), 227-234, 2017 | 83 | 2017 |
| Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis NK Serwas, B Hoeger, RC Ardy, SV Stulz, Z Sui, N Memaran, M Meeths, ... Nature Communications 10 (1), 3106, 2019 | 71 | 2019 |
| Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia NK Serwas, D Cagdas, SA Ban, K Bienemann, E Salzer, İ Tezcan, ... Blood, The Journal of the American Society of Hematology 124 (4), 655-657, 2014 | 68 | 2014 |
| Protein kinase C δ: a gatekeeper of immune homeostasis E Salzer, E Santos-Valente, B Keller, K Warnatz, K Boztug Journal of clinical immunology 36, 631-640, 2016 | 66 | 2016 |
| Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R B Erman, I Bilic, T Hirschmugl, E Salzer, D Çagdas, S Esenboga, ... Haematologica 100 (6), e216, 2015 | 51 | 2015 |
| Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress CD Conde, ÖY Petronczki, S Baris, KL Willmann, E Girardi, E Salzer, ... The Journal of clinical investigation 129 (10), 4194-4206, 2019 | 50 | 2019 |
| Alanyl–glutamine dipeptide restores the cytoprotective stress proteome of mesothelial cells exposed to peritoneal dialysis fluids K Kratochwill, M Boehm, R Herzog, AM Lichtenauer, E Salzer, M Lechner, ... Nephrology Dialysis Transplantation 27 (3), 937-946, 2012 | 49 | 2012 |
| Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype … M Krenn, E Salzer, I Simonitsch-Klupp, J Rath, M Wagner, TB Haack, ... Journal of neurology 265, 394-401, 2018 | 48 | 2018 |
| The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity E Salzer, S Zoghi, MG Kiss, F Kage, C Rashkova, S Stahnke, M Haimel, ... Science immunology 5 (49), eabc3979, 2020 | 47 | 2020 |
| Potentially beneficial effect of hydroxychloroquine in a patient with a novel mutation in protein kinase Cδ deficiency A Kiykim, I Ogulur, S Baris, E Salzer, E Karakoc-Aydiner, AO Ozen, ... Journal of clinical immunology 35, 523-526, 2015 | 39 | 2015 |
| WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly L Pfajfer, MG Seidel, R Houmadi, J Rey-Barroso, T Hirschmugl, E Salzer, ... Blood, The Journal of the American Society of Hematology 130 (17), 1949-1953, 2017 | 37 | 2017 |
| Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3 SA Ban, E Salzer, MM Eibl, A Linder, CB Geier, E Santos-Valente, ... Journal of clinical immunology 34, 941-953, 2014 | 37 | 2014 |
| Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects S Woutsas, C Aytekin, E Salzer, CD Conde, S Apaydin, H Pichler, ... Blood, The Journal of the American Society of Hematology 125 (10), 1674-1676, 2015 | 30 | 2015 |
