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 | 557 | 2017 |
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency S Hacein-Bey-Abina, SY Pai, HB Gaspar, M Armant, CC Berry, S Blanche, ... New England Journal of Medicine 371 (15), 1407-1417, 2014 | 462 | 2014 |
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome SHB Abina, HB Gaspar, J Blondeau, L Caccavelli, S Charrier, K Buckland, ... Jama 313 (15), 1550-1563, 2015 | 433 | 2015 |
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency) JP Schmid, D Canioni, D Moshous, F Touzot, N Mahlaoui, F Hauck, ... Blood, The Journal of the American Society of Hematology 117 (5), 1522-1529, 2011 | 392 | 2011 |
Evidence of innate lymphoid cell redundancy in humans F Vély, V Barlogis, B Vallentin, B Neven, C Piperoglou, M Ebbo, T Perchet, ... Nature immunology 17 (11), 1291-1299, 2016 | 326 | 2016 |
Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability T Le Guen, L Jullien, F Touzot, M Schertzer, L Gaillard, M Perderiset, ... Human molecular genetics 22 (16), 3239-3249, 2013 | 193 | 2013 |
Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection K Izawa, E Martin, C Soudais, J Bruneau, D Boutboul, R Rodriguez, ... Journal of Experimental Medicine 214 (1), 73-89, 2017 | 153 | 2017 |
Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder G Glousker, F Touzot, P Revy, Y Tzfati, SA Savage British journal of haematology 170 (4), 457-471, 2015 | 145 | 2015 |
Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency F Hauck, C Randriamampita, E Martin, S Gerart, N Lambert, A Lim, ... Journal of allergy and clinical immunology 130 (5), 1144-1152. e11, 2012 | 124 | 2012 |
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients M Ouederni, QB Vincent, P Frange, F Touzot, S Scerra, M Bejaoui, ... Blood, The Journal of the American Society of Hematology 118 (19), 5108-5118, 2011 | 114 | 2011 |
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome F Touzot, I Callebaut, J Soulier, L Gaillard, C Azerrad, A Durandy, ... Proceedings of the National Academy of Sciences 107 (22), 10097-10102, 2010 | 100 | 2010 |
Prevalence and clinical impact of norovirus fecal shedding in children with inherited immune deficiencies P Frange, F Touzot, M Debré, S Héritier, M Leruez-Ville, G Cros, ... The Journal of infectious diseases 206 (8), 1269-1274, 2012 | 90 | 2012 |
Haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for primary immunodeficiencies and inherited disorders in children B Neven, JS Diana, M Castelle, A Magnani, J Rosain, F Touzot, B Moreira, ... Biology of Blood and Marrow Transplantation 25 (7), 1363-1373, 2019 | 83 | 2019 |
Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: the HGB-205 trial E Magrin, M Semeraro, N Hebert, L Joseph, A Magnani, A Chalumeau, ... Nature Medicine 28 (1), 81-88, 2022 | 79 | 2022 |
Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell functions M Weisser, UM Demel, S Stein, L Chen-Wichmann, F Touzot, G Santilli, ... Journal of Allergy and Clinical Immunology 138 (1), 219-228. e9, 2016 | 78 | 2016 |
Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1 F Touzot, D Moshous, R Creidy, B Neven, P Frange, G Cros, L Caccavelli, ... Blood, The Journal of the American Society of Hematology 125 (23), 3563-3569, 2015 | 77 | 2015 |
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation T Le Guen, F Touzot, I André-Schmutz, C Lagresle-Peyrou, B France, ... Journal of Allergy and Clinical Immunology 136 (6), 1619-1626. e5, 2015 | 72 | 2015 |
CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study F Touzot, B Neven, L Dal-Cortivo, A Gabrion, D Moshous, G Cros, ... Journal of Allergy and Clinical Immunology 135 (5), 1303-1309. e3, 2015 | 72 | 2015 |
Gene therapy for inherited immunodeficiency F Touzot, S Hacein-Bey-Abina, A Fischer, M Cavazzana Expert opinion on biological therapy 14 (6), 789-798, 2014 | 71 | 2014 |
Gene therapy for primary immunodeficiencies A Fischer, S Hacein‐Bey Abina, F Touzot, M Cavazzana Clinical genetics 88 (6), 507-515, 2015 | 64 | 2015 |