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Items: 1 to 20 of 33

1.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A.

J Exp Med. 2020 Jun 1;217(6). pii: e20191804. doi: 10.1084/jem.20191804.

PMID:
32207811
2.

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.

Coignard-Biehler H, Mahlaoui N, Pilmis B, Barlogis V, Brosselin P, De Vergnes N, Debré M, Malphettes M, Frange P, Catherinot E, Pellier I, Durieu I, Perlat A, Royer B, Le Quellec A, Jeziorski E, Fischer A, Lortholary O; CEREDIH French PID study group, Aaron L, Adoue D, Aguilar C, Aladjidi N, Alcais A, Amoura Z, Arlet P, Armari-Alla C, Bader-Meunier B, Bayart S, Bertrand Y, Bienvenu B, Blanche S, Bodet D, Bonnotte B, Borie R, Boutard P, Briandet C, Brion JP, Brouard J, Cohen-Beaussant S, Costes L, Couderc LJ, Cougoul P, Courteille V, de Saint Basile G, Devoldere C, Deville A, Donadieu J, Dore E, Dulieu F, Edan C, Entz-Werle N, Fieschi C, Forestier A, Fouyssac F, Gajdos V, Galicier L, Gandemer V, Gardembas M, Gaud C, Guillerm G, Hachulla E, Hamidou M, Hermine O, Hoarau C, Humbert S, Jaccard A, Jacquot S, Jais JP, Jaussaud R, Jeandel PY, Kebaili K, Korganow AS, Lambotte O, Lanternier F, Larroche C, Lascaux AS, Le Moigne E, Le Moing V, Lebranchu Y, Lecuit M, Lefevre G, Lemal R, Te VLT, Marie-Cardine A, Silva NM, Masseau A, Massot C, Mazingue F, Merlin E, Michel G, Millot F, Monlibert B, Monpoux F, Moshous D, Mouthon L, Munzer M, Neven B, Nove-Josserand R, Oksenhendler E, Ouachée-Chardin M, Oudot C, Pagnier A, Pasquali JL, Pasquet M, Perel Y, Picard C, Piguet C, Plantaz D, Provot J, Quartier P, Rieux-Laucat F, Roblot P, Roger PM, Rohrlich PS, Rubie H, Salle V, Sarrot-Reynauld F, Servettaz A, Stephan JL, Schleinitz N, Suarez F, Swiader L, Taque S, Thomas C, Tournilhac O, Thumerelle C, Tron F, Vannier JP, Viallard JF.

J Clin Immunol. 2019 Oct;39(7):702-712. doi: 10.1007/s10875-019-00658-9. Epub 2019 Aug 10.

PMID:
31401750
3.

[Management of CAR-T cell-related encephalopathy syndrome in adult and pediatric patients: Recommendations of the French Society of Bone Marrow transplantation and cellular Therapy (SFGM-TC)].

Cornillon J, Hadhoum N, Roth-Guepin G, Quessar A, Platon L, Ouachée-Chardin M, Nicolas-Virelizier E, Naudin J, Moreau AS, Masouridi-Levrat S, Borel C, Ahmad I, Beauvais D, Baruchel A, Yakoub-Agha I.

Bull Cancer. 2020 Jan;107(1S):S12-S17. doi: 10.1016/j.bulcan.2019.05.001. Epub 2019 Jun 13. French.

PMID:
31202556
4.

[Management of cytokine release syndrome in adult and pediatric patients undergoing CAR-T cell therapy for hematological malignancies: Recommendation of the French Society of Bone Marrow and cellular Therapy (SFGM-TC)].

Yakoub-Agha I, Moreau AS, Ahmad I, Borel C, Hadhoum N, Masouridi-Levrat S, Naudin J, Nicolas-Virelizier E, Ouachée-Chardin M, Platon L, Quessar A, Roth-Guepin G, Beauvais D, Baruchel A, Cornillon J.

Bull Cancer. 2019 Jan;106(1S):S102-S109. doi: 10.1016/j.bulcan.2018.12.001. Epub 2019 Jan 17. Review. French.

PMID:
30661749
5.

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry.

Mahlaoui N, Picard C, Bach P, Costes L, Courteille V, Ranohavimparany A, Alcaïs A, Jais JP, Fischer A; CEREDIH French PID study group.

J Allergy Clin Immunol. 2019 Apr;143(4):1646-1649.e10. doi: 10.1016/j.jaci.2018.12.994. Epub 2019 Jan 9. No abstract available.

PMID:
30639347
6.

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.

Berland A, Rosain J, Kaltenbach S, Allain V, Mahlaoui N, Melki I, Fievet A, Dubois d'Enghien C, Ouachée-Chardin M, Perrin L, Auger N, Cipe FE, Finocchi A, Dogu F, Suarez F, Moshous D, Leblanc T, Belot A, Fieschi C, Boutboul D, Malphettes M, Galicier L, Oksenhendler E, Blanche S, Fischer A, Revy P, Stoppa-Lyonnet D, Picard C, de Villartay JP.

J Allergy Clin Immunol. 2019 Jan;143(1):325-334.e2. doi: 10.1016/j.jaci.2018.05.028. Epub 2018 Jun 12.

PMID:
29906526
7.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT).

J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.

8.

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kuśnierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium.

J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7.

9.

Early mixed chimerism-based preemptive immunotherapy in children undergoing allogeneic hematopoietic stem cell transplantation for acute leukemia.

Horn B, Wahlstrom JT, Melton A, Liou A, Ouachee-Chardin M, Sunkersett G, Willert J, Hwang J, Expose-Spencer J, Cowan MC, Facchino J, Dvorak CC.

Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26464. Epub 2017 Feb 16.

PMID:
28205327
10.

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies.

Fischer A, Provot J, Jais JP, Alcais A, Mahlaoui N; members of the CEREDIH French PID study group.

J Allergy Clin Immunol. 2017 Nov;140(5):1388-1393.e8. doi: 10.1016/j.jaci.2016.12.978. Epub 2017 Feb 10.

PMID:
28192146
11.

Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transplantation.

Creidy R, Moshous D, Touzot F, Elie C, Neven B, Gabrion A, Leruez-Ville M, Maury S, Ternaux B, Nisoy J, Luby JM, Héritier S, Dalle JH, Ouachée-Chardin M, Xhaard A, Thomas X, Chevallier P, Souchet L, Treluyer JM, Picard C, Hacein-Bey-Abina S, Dal Cortivo L, Blanche S, Cavazzana M.

J Allergy Clin Immunol. 2016 Sep;138(3):920-924.e3. doi: 10.1016/j.jaci.2016.03.032. Epub 2016 Apr 30. No abstract available.

12.

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group.

Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25.

13.

Relationship between cytomegalovirus (CMV) reactivation, CMV-driven immunity, overall immune recovery and graft-versus-leukaemia effect in children.

Jeljeli M, Guérin-El Khourouj V, Porcher R, Fahd M, Leveillé S, Yakouben K, Ouachée-Chardin M, LeGoff J, Cordeiro DJ, Pédron B, Baruchel A, Dalle JH, Sterkers G.

Br J Haematol. 2014 Jul;166(2):229-39. doi: 10.1111/bjh.12875. Epub 2014 Apr 5.

PMID:
24702221
14.

Allogeneic stem cell transplantation for patients with advanced rhabdomyosarcoma: a retrospective assessment.

Thiel U, Koscielniak E, Blaeschke F, Grunewald TG, Badoglio M, Diaz MA, Paillard C, Prete A, Ussowicz M, Lang P, Fagioli F, Lutz P, Ehninger G, Schneider P, Santucci A, Bader P, Gruhn B, Faraci M, Antunovic P, Styczynski J, Krüger WH, Castagna L, Rohrlich P, Ouachée-Chardin M, Salmon A, Peters C, Bregni M, Burdach S; Solid Tumour Working Party and the Paediatric Disease Working Party of the European Group for Blood and Marrow Transplantation.

Br J Cancer. 2013 Nov 12;109(10):2523-32. doi: 10.1038/bjc.2013.630. Epub 2013 Oct 22.

15.

[Development of psychological and intellectual performance in transplanted sickle cell disease patients: a prospective study from pretransplant period to 5 years after HSCT].

Bockenmeyer J, Chamboredon E, Missud F, Benkerrou M, Holvoët L, Ithier G, Lescoeur B, Yakouben K, Ouachée-Chardin M, Rohrlich PS, Duval M, Baruchel A, Dalle JH.

Arch Pediatr. 2013 Jul;20(7):723-30. doi: 10.1016/j.arcped.2013.04.012. Epub 2013 Jun 12. French.

PMID:
23769628
16.

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

Pasquet M, Bellanné-Chantelot C, Tavitian S, Prade N, Beaupain B, Larochelle O, Petit A, Rohrlich P, Ferrand C, Van Den Neste E, Poirel HA, Lamy T, Ouachée-Chardin M, Mansat-De Mas V, Corre J, Récher C, Plat G, Bachelerie F, Donadieu J, Delabesse E.

Blood. 2013 Jan 31;121(5):822-9. doi: 10.1182/blood-2012-08-447367. Epub 2012 Dec 6.

17.

Cellular and humoral immunity elicited by influenza vaccines in pediatric hematopoietic-stem cell transplantation.

Guérin-El Khourouj V, Duchamp M, Krivine A, Pédron B, Ouachée-Chardin M, Yakouben K, Frémond ML, Baruchel A, Dalle JH, Sterkers G.

Hum Immunol. 2012 Sep;73(9):884-90. doi: 10.1016/j.humimm.2012.07.039. Epub 2012 Jul 20.

PMID:
22820626
18.

Contribution of HLA-A/B/C/DRB1/DQB1 common haplotypes to donor search outcome in unrelated hematopoietic stem cell transplantation.

Pédron B, Guérin-El Khourouj V, Dalle JH, Ouachée-Chardin M, Yakouben K, Corroyez F, Auvrignon A, Petit A, Landman-Parker J, Leverger G, Baruchel A, Sterkers G.

Biol Blood Marrow Transplant. 2011 Nov;17(11):1612-8. doi: 10.1016/j.bbmt.2011.03.009. Epub 2011 Apr 12.

19.

Outcome of children treated with haematopoietic-stem cell transplantations from donors expressing the rare C77G variant of the PTPRC (CD45) gene.

Samaan S, Guérin-El Khourouj V, Auboeuf D, Peltier L, Pédron B, Ouachée-Chardin M, Gourgouillon N, Baruchel A, Dalle JH, Sterkers G.

Br J Haematol. 2011 Apr;153(1):47-57. doi: 10.1111/j.1365-2141.2011.08568.x. Epub 2011 Feb 17.

PMID:
21323873
20.

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, Kanegane H, Lopez-Granados E, Mejstrikova E, Pellier I, Galicier L, Galambrun C, Barlogis V, Bordigoni P, Fourmaintraux A, Hamidou M, Dabadie A, Le Deist F, Haerynck F, Ouachée-Chardin M, Rohrlich P, Stephan JL, Lenoir C, Rigaud S, Lambert N, Milili M, Schiff C, Chapel H, Picard C, de Saint Basile G, Blanche S, Fischer A, Latour S.

Blood. 2011 Feb 3;117(5):1522-9. doi: 10.1182/blood-2010-07-298372. Epub 2010 Nov 30.

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