Pesquisa | Secretaria de Estado da Saúde

1.

Evidence of innate lymphoid cell redundancy in humans.

Vély, Frédéric; Barlogis, Vincent; Vallentin, Blandine; Neven, Bénédicte; Piperoglou, Christelle; Ebbo, Mikael; Perchet, Thibaut; Petit, Maxime; Yessaad, Nadia; Touzot, Fabien; Bruneau, Julie; Mahlaoui, Nizar; Zucchini, Nicolas; Farnarier, Catherine; Michel, Gérard; Moshous, Despina; Blanche, Stéphane; Dujardin, Arnaud; Spits, Hergen; Distler, Jörg H W; Ramming, Andreas; Picard, Capucine; Golub, Rachel; Fischer, Alain; Vivier, Eric.

Nat Immunol ; 17(11): 1291-1299, 2016 Nov.

Artigo Inglês | MEDLINE | ID: mdl-27618553

2.

Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD.

Leiding, Jennifer W; Arnold, Danielle E; Parikh, Suhag; Logan, Brent; Marsh, Rebecca A; Griffith, Linda M; Wu, Ruizhe; Kidd, Sharon; Mallhi, Kanwaldeep; Chellapandian, Deepak; Si Lim, Stephanie J; Grunebaum, Eyal; Falcone, E Liana; Murguia-Favela, Luis; Grossman, Debbi; Prasad, Vinod K; Heimall, Jennifer R; Touzot, Fabien; Burroughs, Lauri M; Bleesing, Jack; Kapoor, Neena; Dara, Jasmeen; Williams, Olatundun; Kapadia, Malika; Oshrine, Benjamin R; Bednarski, Jeffrey J; Rayes, Ahmad; Chong, Hey; Cuvelier, Geoffrey D E; Forbes Satter, Lisa R; Martinez, Caridad; Vander Lugt, Mark T; Yu, Lolie C; Chandrakasan, Shanmuganathan; Joshi, Avni; Prockop, Susan E; Dávila Saldaña, Blachy J; Aquino, Victor; Broglie, Larisa A; Ebens, Christen L; Madden, Lisa M; DeSantes, Kenneth; Milner, Jordan; Rangarajan, Hemalatha G; Shah, Ami J; Gillio, Alfred P; Knutsen, Alan P; Miller, Holly K; Moore, Theodore B; Graham, Pamela.

Blood ; 142(24): 2105-2118, 2023 12 14.

Artigo Inglês | MEDLINE | ID: mdl-37562003

3.

Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.

Tremblay-Laganière, Camille; Michaud, Coralie; Abourjaili-Bilodeau, Raphaël; Cabezas, Alicia; Canales, José; Costas, María Jesús; Ribeiro, João M; Leclerc-Blain, Jessica; Touzot, Fabien; Haddad, Elie; Teira, Pierre; Duval, Michel; Onoufriadis, Alexandros; Meunier, Brigitte; Cameselle, José Carlos; Campeau, Philippe M.

J Med Genet ; 2024 May 02.

Artigo Inglês | MEDLINE | ID: mdl-38697782

4.

JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.

Fischer, Marco; Olbrich, Peter; Hadjadj, Jérôme; Aumann, Volker; Bakhtiar, Shahrzad; Barlogis, Vincent; von Bismarck, Philipp; Bloomfield, Markéta; Booth, Claire; Buddingh, Emmeline P; Cagdas, Deniz; Castelle, Martin; Chan, Alice Y; Chandrakasan, Shanmuganathan; Chetty, Kritika; Cougoul, Pierre; Crickx, Etienne; Dara, Jasmeen; Deyà-Martínez, Angela; Farmand, Susan; Formankova, Renata; Gennery, Andrew R; Gonzalez-Granado, Luis Ignacio; Hagin, David; Hanitsch, Leif Gunnar; Hanzlikovà, Jana; Hauck, Fabian; Ivorra-Cortés, José; Kisand, Kai; Kiykim, Ayca; Körholz, Julia; Leahy, Timothy Ronan; van Montfrans, Joris; Nademi, Zohreh; Nelken, Brigitte; Parikh, Suhag; Plado, Silvi; Ramakers, Jan; Redlich, Antje; Rieux-Laucat, Frédéric; Rivière, Jacques G; Rodina, Yulia; Júnior, Pérsio Roxo; Salou, Sarah; Schuetz, Catharina; Shcherbina, Anna; Slatter, Mary A; Touzot, Fabien; Unal, Ekrem; Lankester, Arjan C.

J Allergy Clin Immunol ; 153(1): 275-286.e18, 2024 01.

Artigo Inglês | MEDLINE | ID: mdl-37935260

5.

Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study.

Grunebaum, Eyal; Arnold, Danielle E; Logan, Brent; Parikh, Suhag; Marsh, Rebecca A; Griffith, Linda M; Mallhi, Kanwaldeep; Chellapandian, Deepak; Lim, Stephanie Si; Deal, Christin L; Kapoor, Neena; Murguía-Favela, Luis; Falcone, Emilia Liana; Prasad, Vinod K; Touzot, Fabien; Bleesing, Jack J; Chandrakasan, Shanmuganathan; Heimall, Jennifer R; Bednarski, Jeffrey J; Broglie, Larisa A; Chong, Hey Jin; Kapadia, Malika; Prockop, Susan; Dávila Saldaña, Blachy J; Schaefer, Edo; Bauchat, Andrea L; Teira, Pierre; Chandra, Sharat; Parta, Mark; Cowan, Morton J; Dvorak, Christopher C; Haddad, Elie; Kohn, Donald B; Notarangelo, Luigi D; Pai, Sung-Yun; Puck, Jennifer M; Pulsipher, Michael A; Torgerson, Troy R; Malech, Harry L; Kang, Elizabeth M; Leiding, Jennifer W.

J Allergy Clin Immunol ; 153(5): 1423-1431.e2, 2024 May.

Artigo Inglês | MEDLINE | ID: mdl-38290608

6.

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.

Kermasson, Laëtitia; Churikov, Dmitri; Awad, Aya; Smoom, Riham; Lainey, Elodie; Touzot, Fabien; Audebert-Bellanger, Séverine; Haro, Sophie; Roger, Lauréline; Costa, Emilia; Mouf, Maload; Bottero, Adriana; Oleastro, Matias; Abdo, Chrystelle; de Villartay, Jean-Pierre; Géli, Vincent; Tzfati, Yehuda; Callebaut, Isabelle; Danielian, Silvia; Soares, Gabriela; Kannengiesser, Caroline; Revy, Patrick.

Blood ; 139(16): 2427-2440, 2022 04 21.

Artigo Inglês | MEDLINE | ID: mdl-35007328

7.

Looking for ALPS: The value of a combined assessment of biochemical markers.

Fernandez, Isabel; Touzot, Fabien.

Pediatr Allergy Immunol ; 35(5): e14135, 2024 May.

Artigo Inglês | MEDLINE | ID: mdl-38700373

8.

NOX2 deficiency enhances priming and activation of the NLRP3 inflammasome.

Monjarret, Blandine; Shour, Sara; Benyoucef, Aissa; Heckel, Emilie; Marchitto, Lorie; Leiding, Jennifer W; Cros, Guilhem; Fernandez, Isabel; Joyal, Jean-Sebastien; Touzot, Fabien.

J Allergy Clin Immunol ; 2023 Oct 05.

Artigo Inglês | MEDLINE | ID: mdl-37805023

9.

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.

Chandrasekaran, Prabha; Han, Yu; Zerbe, Christa S; Heller, Theo; DeRavin, Suk See; Kreuzberg, Samantha A; Marciano, Beatriz E; Siu, Yik; Jones, Drew R; Abraham, Roshini S; Stephens, Michael C; Tsou, Amy M; Snapper, Scott; Conlan, Sean; Subramanian, Poorani; Quinones, Mariam; Grou, Caroline; Calderon, Virginie; Deming, Clayton; Leiding, Jennifer W; Arnold, Danielle E; Logan, Brent R; Griffith, Linda M; Petrovic, Aleksandra; Mousallem, Talal I; Kapoor, Neena; Heimall, Jennifer R; Barnum, Jessie L; Kapadia, Malika; Wright, Nicola; Rayes, Ahmad; Chandra, Sharat; Broglie, Larisa A; Chellapandian, Deepak; Deal, Christin L; Grunebaum, Eyal; Lim, Stephanie Si; Mallhi, Kanwaldeep; Marsh, Rebecca A; Murguia-Favela, Luis; Parikh, Suhag; Touzot, Fabien; Cowan, Morton J; Dvorak, Christopher C; Haddad, Elie; Kohn, Donald B; Notarangelo, Luigi D; Pai, Sung-Yun; Puck, Jennifer M; Pulsipher, Michael A.

J Allergy Clin Immunol ; 152(6): 1619-1633.e11, 2023 12.

Artigo Inglês | MEDLINE | ID: mdl-37659505

10.

Corrigendum: Evidence of innate lymphoid cell redundancy in humans.

Vély, Frédéric; Barlogis, Vincent; Vallentin, Blandine; Neven, Bénédicte; Piperoglou, Christelle; Perchet, Thibaut; Petit, Maxime; Yessaad, Nadia; Touzot, Fabien; Bruneau, Julie; Mahlaoui, Nizar; Zucchini, Nicolas; Farnarier, Catherine; Michel, Gérard; Moshous, Despina; Blanche, Stéphane; Dujardin, Arnaud; Spits, Hergen; Distler, Jörg H W; Ramming, Andreas; Picard, Capucine; Golub, Rachel; Fischer, Alain; Vivier, Eric.

Nat Immunol ; 17(12): 1479, 2016 11 16.

Artigo Inglês | MEDLINE | ID: mdl-27849206

11.

Rac'n'rolling the immune system.

Touzot, Fabien.

Blood ; 143(15): 1433-1434, 2024 Apr 11.

Artigo Inglês | MEDLINE | ID: mdl-38602700

12.

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.

Blincoe, Annaliesse; Heeg, Maximilian; Campbell, Patrick K; Hines, Melissa; Khojah, Amer; Klein-Gitelman, Marisa; Talano, Julie-An; Speckmann, Carsten; Touzot, Fabien; Lankester, Arjan; Legger, Geertje E; Rivière, Jacques G; Garcia-Prat, Marina; Alonso, Laura; Putti, Maria C; Lehmberg, Kai; Maier, Sarah; El Chazli, Yasmine; Elmaksoud, Marwa Abd; Astigarraga, Itziar; Kurjane, Natalja; Bulina, Inita; Kenina, Viktorija; Bryceson, Yenan; Rascon, Jelena; Lortie, Anne; Goldstein, Gal; Booth, Claire; Worth, Austen; Wassmer, Evangeline; Schmitt, Erica G; Warren, Julia T; Bednarski, Jeffrey J; Ali, Salah; Chiang, Kuang-Yueh; Krueger, Joerg; Henry, Michael M; Holland, Steven M; Marsh, Rebecca A; Ehl, Stephan; Haddad, Elie.

J Clin Immunol ; 40(6): 901-916, 2020 08.

Artigo Inglês | MEDLINE | ID: mdl-32638196

13.

Extensive multilineage analysis in patients with mixed chimerism after allogeneic transplantation for sickle cell disease: insight into hematopoiesis and engraftment thresholds for gene therapy.

Magnani, Alessandra; Pondarré, Corinne; Bouazza, Naïm; Magalon, Jeremy; Miccio, Annarita; Six, Emmanuelle; Roudaut, Cecile; Arnaud, Cécile; Kamdem, Annie; Touzot, Fabien; Gabrion, Aurélie; Magrin, Elisa; Couzin, Chloé; Fusaro, Mathieu; André, Isabelle; Vernant, Jean-Paul; Gluckman, Eliane; Bernaudin, Françoise; Bories, Dominique; Cavazzana, Marina.

Haematologica ; 105(5): 1240-1247, 2020 05.

Artigo Inglês | MEDLINE | ID: mdl-31537695

14.

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet, Alice; Bellanger, Dorine; Rieunier, Guillaume; Dubois d'Enghien, Catherine; Sophie, Julia; Calvas, Patrick; Carriere, Jean-Paul; Anheim, Mathieu; Castrioto, Anna; Flabeau, Olivier; Degos, Bertrand; Ewenczyk, Claire; Mahlaoui, Nizar; Touzot, Fabien; Suarez, Felipe; Hully, Marie; Roubertie, Agathe; Aladjidi, Nathalie; Tison, François; Antoine-Poirel, Hélène; Dahan, Karine; Doummar, Diane; Nougues, Marie-Christine; Ioos, Christine; Rougeot, Christelle; Masurel, Alice; Bourjault, Caroline; Ginglinger, Emmanuelle; Prieur, Fabienne; Siri, Aurélie; Bordigoni, Pierre; Nguyen, Karine; Philippe, Noel; Bellesme, Céline; Demeocq, François; Altuzarra, Cecilia; Mathieu-Dramard, Michèle; Couderc, Fanny; Dörk, Thilo; Auger, Nathalie; Parfait, Béatrice; Abidallah, Khadija; Moncoutier, Virginie; Collet, Agnès; Stoppa-Lyonnet, Dominique; Stern, Marc-Henri.

Hum Mutat ; 40(10): 1713-1730, 2019 10.

Artigo Inglês | MEDLINE | ID: mdl-31050087

15.

Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immunodeficiencies and Inherited Disorders in Children.

Neven, Bénédicte; Diana, Jean-Sébastien; Castelle, Martin; Magnani, Alessandra; Rosain, Jérémie; Touzot, Fabien; Moreira, Baptiste; Fremond, Marie-Louise; Briand, Coralie; Bendavid, Matthieu; Levy, Romain; Morelle, Guillaume; Vincent, Marc; Magrin, Elsa; Bourget, Philippe; Chatenoud, Lucienne; Picard, Capucine; Fischer, Alain; Moshous, Despina; Blanche, Stéphane.

Biol Blood Marrow Transplant ; 25(7): 1363-1373, 2019 07.

Artigo Inglês | MEDLINE | ID: mdl-30876929

16.

Lupus Vulgaris Revealing an IκBα Gain of Function Variant.

Tapiero, Bruce; Maari, Catherine; Kokta, Victor; Fernandez, Isabel; Touzot, Fabien.

J Clin Immunol ; 43(3): 545-547, 2023 04.

Artigo Inglês | MEDLINE | ID: mdl-36527542

17.

Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease.

Gabrion, Aurélie; Hmitou, Isabelle; Moshous, Despina; Neven, Bénédicte; Lefèvre-Utile, Alain; Diana, Jean-Sébastien; Suarez, Félipe; Picard, Capucine; Blanche, Stéphane; Fischer, Alain; Cavazzana, Marina; Touzot, Fabien.

J Allergy Clin Immunol ; 139(5): 1641-1649.e6, 2017 May.

Artigo Inglês | MEDLINE | ID: mdl-27702670

18.

Clinical spectrum and features of activated phosphoinositide 3-kinase Î´ syndrome: A large patient cohort study.

Coulter, Tanya I; Chandra, Anita; Bacon, Chris M; Babar, Judith; Curtis, James; Screaton, Nick; Goodlad, John R; Farmer, George; Steele, Cathal Laurence; Leahy, Timothy Ronan; Doffinger, Rainer; Baxendale, Helen; Bernatoniene, Jolanta; Edgar, J David M; Longhurst, Hilary J; Ehl, Stephan; Speckmann, Carsten; Grimbacher, Bodo; Sediva, Anna; Milota, Tomas; Faust, Saul N; Williams, Anthony P; Hayman, Grant; Kucuk, Zeynep Yesim; Hague, Rosie; French, Paul; Brooker, Richard; Forsyth, Peter; Herriot, Richard; Cancrini, Caterina; Palma, Paolo; Ariganello, Paola; Conlon, Niall; Feighery, Conleth; Gavin, Patrick J; Jones, Alison; Imai, Kohsuke; Ibrahim, Mohammad A A; Markelj, Gasper; Abinun, Mario; Rieux-Laucat, Frédéric; Latour, Sylvain; Pellier, Isabelle; Fischer, Alain; Touzot, Fabien; Casanova, Jean-Laurent; Durandy, Anne; Burns, Siobhan O; Savic, Sinisa; Kumararatne, D S.

J Allergy Clin Immunol ; 139(2): 597-606.e4, 2017 02.

Artigo Inglês | MEDLINE | ID: mdl-27555459

19.

A modified Î³-retrovirus vector for X-linked severe combined immunodeficiency.

Hacein-Bey-Abina, Salima; Pai, Sung-Yun; Gaspar, H Bobby; Armant, Myriam; Berry, Charles C; Blanche, Stephane; Bleesing, Jack; Blondeau, Johanna; de Boer, Helen; Buckland, Karen F; Caccavelli, Laure; Cros, Guilhem; De Oliveira, Satiro; Fernández, Karen S; Guo, Dongjing; Harris, Chad E; Hopkins, Gregory; Lehmann, Leslie E; Lim, Annick; London, Wendy B; van der Loo, Johannes C M; Malani, Nirav; Male, Frances; Malik, Punam; Marinovic, M Angélica; McNicol, Anne-Marie; Moshous, Despina; Neven, Benedicte; Oleastro, Matías; Picard, Capucine; Ritz, Jerome; Rivat, Christine; Schambach, Axel; Shaw, Kit L; Sherman, Eric A; Silberstein, Leslie E; Six, Emmanuelle; Touzot, Fabien; Tsytsykova, Alla; Xu-Bayford, Jinhua; Baum, Christopher; Bushman, Frederic D; Fischer, Alain; Kohn, Donald B; Filipovich, Alexandra H; Notarangelo, Luigi D; Cavazzana, Marina; Williams, David A; Thrasher, Adrian J.

N Engl J Med ; 371(15): 1407-17, 2014 Oct 09.

Artigo Inglês | MEDLINE | ID: mdl-25295500

20.

Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1.

Touzot, Fabien; Moshous, Despina; Creidy, Rita; Neven, Bénédicte; Frange, Pierre; Cros, Guilhem; Caccavelli, Laure; Blondeau, Johanna; Magnani, Alessandra; Luby, Jean-Marc; Ternaux, Brigitte; Picard, Capucine; Blanche, Stéphane; Fischer, Alain; Hacein-Bey-Abina, Salima; Cavazzana, Marina.

Blood ; 125(23): 3563-9, 2015 Jun 04.

Artigo Inglês | MEDLINE | ID: mdl-25869287

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