|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis|
R Spiegel, A Shaag, S Edvardson, H Mandel, P Stepensky, SA Shalev, ...
Annals of Neurology: Official Journal of the American Neurological …, 2009
|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
|Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry|
H Tamary, D Nishri, J Yacobovich, R Zilber, O Dgany, T Krasnov, S Aviner, ...
haematologica 95 (8), 1300, 2010
|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
|Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency|
P Stepensky, A Rensing-Ehl, R Gather, S Revel-Vilk, U Fischer, ...
Blood, The Journal of the American Society of Hematology 125 (5), 753-761, 2015
|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), 1-14, 2017
|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