| Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study T Güngör, P Teira, M Slatter, G Stussi, P Stepensky, D Moshous, ... The Lancet 383 (9915), 436-448, 2014 | 356 | 2014 |
| 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 | 298 | 2016 |
| Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency MP Cicalese, F Ferrua, L Castagnaro, R Pajno, F Barzaghi, S Giannelli, ... Blood, The Journal of the American Society of Hematology 128 (1), 45-54, 2016 | 245 | 2016 |
| Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies CS Ma, N Wong, G Rao, DT Avery, J Torpy, T Hambridge, J Bustamante, ... Journal of Allergy and Clinical Immunology 136 (4), 993-1006. e1, 2015 | 200 | 2015 |
| Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects P Stepensky, B Keller, M Buchta, AK Kienzler, O Elpeleg, R Somech, ... Journal of allergy and clinical immunology 131 (2), 477-485. e1, 2013 | 200 | 2013 |
| 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 | 180 | 2015 |
| Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia S Topka, J Vijai, MF Walsh, L Jacobs, A Maria, D Villano, P Gaddam, ... PLoS genetics 11 (6), e1005262, 2015 | 170 | 2015 |
| Treatment of severe steroid resistant acute GVHD with mesenchymal stromal cells (MSC) IB Resnick, C Barkats, MY Shapira, P Stepensky, AI Bloom, A Shimoni, ... American journal of blood research 3 (3), 225, 2013 | 159 | 2013 |
| The CARD11-BCL10-MALT1 (CBM) signalosome complex: stepping into the limelight of human primary immunodeficiency SE Turvey, A Durandy, A Fischer, SY Fung, RS Geha, A Gewies, T Giese, ... Journal of Allergy and Clinical Immunology 134 (2), 276-284, 2014 | 148 | 2014 |
| Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome P Stepensky, M Chacón-Flores, KH Kim, O Abuzaitoun, A Bautista-Santos, ... Journal of medical genetics 54 (8), 558-566, 2017 | 131 | 2017 |
| Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score VK Tesch, H Abolhassani, B Shadur, J Zobel, Y Mareika, S Sharapova, ... Journal of Allergy and Clinical Immunology 145 (5), 1452-1463, 2020 | 130 | 2020 |
| IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach P Stepensky, M Weintraub, A Yanir, S Revel-Vilk, F Krux, K Huck, ... haematologica 96 (3), 472, 2011 | 130 | 2011 |
| IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2 C Jandl, SM Liu, PF Canete, J Warren, WE Hughes, A Vogelzang, ... Nature communications 8 (1), 14647, 2017 | 113 | 2017 |
| Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation S Revel-Vilk, U Fischer, B Keller, S Nabhani, L Gámez-Díaz, ... Clinical immunology 159 (1), 84-92, 2015 | 113 | 2015 |
| Extending the clinical phenotype of adenosine deaminase 2 deficiency T Ben-Ami, S Revel-Vilk, R Brooks, A Shaag, MS Hershfield, SJ Kelly, ... The Journal of Pediatrics 177, 316-320, 2016 | 108 | 2016 |
| Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults R Chiesa, J Wang, HJ Blok, S Hazelaar, B Neven, D Moshous, A Schulz, ... Blood, The Journal of the American Society of Hematology 136 (10), 1201-1211, 2020 | 106 | 2020 |
| STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function RP Wilson, ML Ives, G Rao, A Lau, K Payne, M Kobayashi, PD Arkwright, ... Journal of Experimental Medicine 212 (6), 855-864, 2015 | 106 | 2015 |
| Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures Y Matzner, S Abedat, E Shapiro, S Eisenberg, A Bar-Gil-Shitrit, ... Blood, The Journal of the American Society of Hematology 96 (2), 727-731, 2000 | 106 | 2000 |
| Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ... Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020 | 104 | 2020 |
| Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c. 547G> A F Auer, F Rüschendorf, M Gombert, P Husemann, S Ginzel, S Izraeli, ... Leukemia 28 (5), 1136-1138, 2014 | 103 | 2014 |
