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Items: 1 to 50 of 111

1.

Inherited Immunodeficiencies With High Predisposition to Epstein-Barr Virus-Driven Lymphoproliferative Diseases.

Latour S, Winter S.

Front Immunol. 2018 Jun 4;9:1103. doi: 10.3389/fimmu.2018.01103. eCollection 2018. Review.

2.

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD.

J Clin Invest. 2018 Jul 2;128(7):3071-3087. doi: 10.1172/JCI98164. Epub 2018 Jun 11.

3.

Hematopoietic stem cell transplantation for cytidine triphosphate synthase 1 (CTPS1) deficiency.

Nademi Z, Wynn RF, Slatter M, Hughes SM, Bonney D, Qasim W, Latour S, Trück J, Patel S, Abinun M, Flood T, Hambleton S, Cant AJ, Gennery AR, Arkwright PD.

Bone Marrow Transplant. 2018 Jun 8. doi: 10.1038/s41409-018-0246-x. [Epub ahead of print] No abstract available.

PMID:
29884857
4.

A Multimodal Adaptive Wireless Control Interface for People With Upper-Body Disabilities.

Fall CL, Quevillon F, Blouin M, Latour S, Campeau-Lecours A, Gosselin C, Gosselin B.

IEEE Trans Biomed Circuits Syst. 2018 Jun;12(3):564-575. doi: 10.1109/TBCAS.2018.2810256.

PMID:
29877820
5.

Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.

Charbit-Henrion F, Parlato M, Hanein S, Duclaux-Loras R, Nowak J, Begue B, Rakotobe S, Bruneau J, Fourrage C, Alibeu O, Rieux-Laucat F, Lévy E, Stolzenberg MC, Mazerolles F, Latour S, Lenoir C, Fischer A, Picard C, Aloi M, Amil Dias J, Ben Hariz M, Bourrier A, Breuer C, Breton A, Bronski J, Buderus S, Cananzi M, Coopman S, Crémilleux C, Dabadie A, Dumant-Forest C, Egritas Gurkan O, Fabre A, Fischer A, German Diaz M, Gonzalez-Lama Y, Goulet O, Guariso G, Gurcan N, Homan M, Hugot JP, Jeziorski E, Karanika E, Lachaux A, Lewindon P, Lima R, Magro F, Major J, Malamut G, Mas E, Mattyus I, Mearin LM, Melek J, Navas-Lopez VM, Paerregaard A, Pelatan C, Pigneur B, Pinto Pais I, Rebeuh J, Romano C, Siala N, Strisciuglio C, Tempia-Caliera M, Tounian P, Turner D, Urbonas V, Willot S, Ruemmele FM, Cerf-Bensussan N.

J Crohns Colitis. 2018 May 18. doi: 10.1093/ecco-jcc/jjy068. [Epub ahead of print]

PMID:
29788237
6.

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Ono S, Nakayama M, Kanegane H, Hoshino A, Shimodera S, Shibata H, Fujino H, Fujino T, Yunomae Y, Okano T, Yamashita M, Yasumi T, Izawa K, Takagi M, Imai K, Zhang K, Marsh R, Picard C, Latour S, Ohara O, Morio T.

Int J Hematol. 2018 Sep;108(3):319-328. doi: 10.1007/s12185-018-2475-6. Epub 2018 May 18.

PMID:
29777376
7.

Guns, germs, and trees determine density and distribution of gorillas and chimpanzees in Western Equatorial Africa.

Strindberg S, Maisels F, Williamson EA, Blake S, Stokes EJ, Aba'a R, Abitsi G, Agbor A, Ambahe RD, Bakabana PC, Bechem M, Berlemont A, Bokoto de Semboli B, Boundja PR, Bout N, Breuer T, Campbell G, De Wachter P, Ella Akou M, Esono Mba F, Feistner ATC, Fosso B, Fotso R, Greer D, Inkamba-Nkulu C, Iyenguet CF, Jeffery KJ, Kokangoye M, Kühl HS, Latour S, Madzoke B, Makoumbou C, Malanda GF, Malonga R, Mbolo V, Morgan DB, Motsaba P, Moukala G, Mowawa BS, Murai M, Ndzai C, Nishihara T, Nzooh Z, Pintea L, Pokempner A, Rainey HJ, Rayden T, Ruffler H, Sanz CM, Todd A, Vanleeuwe H, Vosper A, Warren Y, Wilkie DS.

Sci Adv. 2018 Apr 25;4(4):eaar2964. doi: 10.1126/sciadv.aar2964. eCollection 2018 Apr.

8.

Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility.

Winter S, Martin E, Boutboul D, Lenoir C, Boudjemaa S, Petit A, Picard C, Fischer A, Leverger G, Latour S.

EMBO Mol Med. 2018 Feb;10(2):188-199. doi: 10.15252/emmm.201708292.

9.

RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease.

Mao H, Yang W, Latour S, Yang J, Winter S, Zheng J, Ni K, Lv M, Liu C, Huang H, Chan KW, Pui-Wah Lee P, Tu W, Fischer A, Lau YL.

J Allergy Clin Immunol. 2018 Aug;142(2):595-604.e16. doi: 10.1016/j.jaci.2017.10.026. Epub 2017 Nov 15.

10.

Characterization of printed PLA scaffolds for bone tissue engineering.

Grémare A, Guduric V, Bareille R, Heroguez V, Latour S, L'heureux N, Fricain JC, Catros S, Le Nihouannen D.

J Biomed Mater Res A. 2018 Apr;106(4):887-894. doi: 10.1002/jbm.a.36289. Epub 2017 Nov 20.

PMID:
29105943
11.

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection.

Izawa K, Martin E, Soudais C, Bruneau J, Boutboul D, Rodriguez R, Lenoir C, Hislop AD, Besson C, Touzot F, Picard C, Callebaut I, de Villartay JP, Moshous D, Fischer A, Latour S.

J Exp Med. 2017 Jan;214(1):73-89. doi: 10.1084/jem.20160784. Epub 2016 Dec 23.

12.

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

Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ.

J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

13.

SLAM-associated protein favors the development of iNKT2 over iNKT17 cells.

Michel ML, Lenoir C, Massot B, Diem S, Pasquier B, Sawa S, Rignault-Bricard R, Lehuen A, Eberl G, Veillette A, Leite-de-Moraes M, Latour S.

Eur J Immunol. 2016 Sep;46(9):2162-74. doi: 10.1002/eji.201646313. Epub 2016 Jul 22.

14.

A hematopoietic cell-driven mechanism involving SLAMF6 receptor, SAP adaptors and SHP-1 phosphatase regulates NK cell education.

Wu N, Zhong MC, Roncagalli R, Pérez-Quintero LA, Guo H, Zhang Z, Lenoir C, Dong Z, Latour S, Veillette A.

Nat Immunol. 2016 Apr;17(4):387-96. doi: 10.1038/ni.3369. Epub 2016 Feb 15.

PMID:
26878112
15.

Refractory monogenic Crohn's disease due to X-linked inhibitor of apoptosis deficiency.

Coelho R, Peixoto A, Amil-Dias J, Trindade E, Campos M, Magina S, Charbit-Henrion F, Lenoir C, Latour S, Magro F, Macedo G.

Int J Colorectal Dis. 2016 Jun;31(6):1235-6. doi: 10.1007/s00384-015-2442-0. Epub 2015 Nov 19. No abstract available.

PMID:
26584814
16.

Localized Store-Operated Calcium Influx Represses CD95-Dependent Apoptotic Effects of Rituximab in Non-Hodgkin B Lymphomas.

Vacher P, Vacher AM, Pineau R, Latour S, Soubeyran I, Pangault C, Tarte K, Soubeyran P, Ducret T, Bresson-Bepoldin L.

J Immunol. 2015 Sep 1;195(5):2207-15. doi: 10.4049/jimmunol.1402942. Epub 2015 Jul 22.

17.

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.

Hauck F, Blumenthal B, Fuchs S, Lenoir C, Martin E, Speckmann C, Vraetz T, Mannhardt-Laakmann W, Lambert N, Gil M, Borte S, Audrain M, Schwarz K, Lim A, Schamel WW, Fischer A, Ehl S, Rensing-Ehl A, Picard C, Latour S.

Clin Immunol. 2015 Dec;161(2):103-9. doi: 10.1016/j.clim.2015.07.002. Epub 2015 Jul 14.

PMID:
26187144
18.

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL.

Science. 2015 Aug 7;349(6248):606-613. doi: 10.1126/science.aaa4282. Epub 2015 Jul 9.

19.

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.

Schaballie H, Rodriguez R, Martin E, Moens L, Frans G, Lenoir C, Dutré J, Canioni D, Bossuyt X, Fischer A, Latour S, Meyts I, Picard C.

J Allergy Clin Immunol. 2015 Sep;136(3):816-819.e4. doi: 10.1016/j.jaci.2015.03.009. Epub 2015 Apr 30. No abstract available.

PMID:
25935105
20.

X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.

Aguilar C, Latour S.

J Clin Immunol. 2015 May;35(4):331-8. doi: 10.1007/s10875-015-0141-9. Epub 2015 Mar 4. Review.

PMID:
25737324
21.

XIAP deficiency syndrome in humans.

Latour S, Aguilar C.

Semin Cell Dev Biol. 2015 Mar;39:115-23. doi: 10.1016/j.semcdb.2015.01.015. Epub 2015 Feb 7. Review.

PMID:
25666262
22.

A mutation in X-linked inhibitor of apoptosis (G466X) leads to memory inflation of Epstein-Barr virus-specific T cells.

Lopez-Granados E, Stacey M, Kienzler AK, Sierro S, Willberg CB, Fox CP, Rigaud S, Long HM, Hislop AD, Rickinson AB, Patel S, Latour S, Klenerman P, Chapel H.

Clin Exp Immunol. 2014 Dec;178(3):470-82. doi: 10.1111/cei.12427.

23.

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

Aguilar C, Lenoir C, Lambert N, Bègue B, Brousse N, Canioni D, Berrebi D, Roy M, Gérart S, Chapel H, Schwerd T, Siproudhis L, Schäppi M, Al-Ahmari A, Mori M, Yamaide A, Galicier L, Neven B, Routes J, Uhlig HH, Koletzko S, Patel S, Kanegane H, Picard C, Fischer A, Bensussan NC, Ruemmele F, Hugot JP, Latour S.

J Allergy Clin Immunol. 2014 Nov;134(5):1131-41.e9. doi: 10.1016/j.jaci.2014.04.031. Epub 2014 Jun 15.

PMID:
24942515
24.

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.

Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschké P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S.

Nature. 2014 Jun 12;510(7504):288-92. doi: 10.1038/nature13386. Epub 2014 May 28. Erratum in: Nature. 2014 Jul 17;511(7509):370.

PMID:
24870241
25.

TLR-induced cytokines promote effective proinflammatory natural Th17 cell responses.

Massot B, Michel ML, Diem S, Ohnmacht C, Latour S, Dy M, Eberl G, Leite-de-Moraes MC.

J Immunol. 2014 Jun 15;192(12):5635-42. doi: 10.4049/jimmunol.1302089. Epub 2014 May 7.

26.

EAT-2, a SAP-like adaptor, controls NK cell activation through phospholipase Cγ, Ca++, and Erk, leading to granule polarization.

Pérez-Quintero LA, Roncagalli R, Guo H, Latour S, Davidson D, Veillette A.

J Exp Med. 2014 Apr 7;211(4):727-42. doi: 10.1084/jem.20132038. Epub 2014 Mar 31.

27.

Identification of SLAMF3 (CD229) as an inhibitor of hepatocellular carcinoma cell proliferation and tumour progression.

Marcq I, Nyga R, Cartier F, Amrathlal RS, Ossart C, Ouled-Haddou H, Ghamlouch H, Galmiche A, Chatelain D, Lamotte L, Debuysscher V, Fuentes V, Nguyen-Khac E, Regimbeau JM, Marolleau JP, Latour S, Bouhlal H.

PLoS One. 2013 Dec 20;8(12):e82918. doi: 10.1371/journal.pone.0082918. eCollection 2013.

28.

Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.

Lorenzi L, Tabellini G, Vermi W, Moratto D, Porta F, Notarangelo LD, Patrizi O, Sozzani S, de Saint Basile G, Latour S, Pace D, Lonardi S, Facchetti F, Badolato R, Parolini S.

PLoS One. 2013 Nov 26;8(11):e80131. doi: 10.1371/journal.pone.0080131. eCollection 2013.

29.

X-linked lymphoproliferative syndromes and related autosomal recessive disorders.

Veillette A, Pérez-Quintero LA, Latour S.

Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):614-22. doi: 10.1097/ACI.0000000000000008. Review.

PMID:
24113228
30.

In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.

Strullu M, Caye A, Cassinat B, Fenneteau O, Touzot F, Blauwblomme T, Rodriguez R, Latour S, Petit A, Barlogis V, Galambrun C, Leblanc T, Baruchel A, Chomienne C, Cavé H.

Leukemia. 2013 Dec;27(12):2404-7. doi: 10.1038/leu.2013.203. Epub 2013 Jul 4. No abstract available.

PMID:
23823657
31.

The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands.

Eijgelshoven I, Demirdas S, Smith TA, van Loon JM, Latour S, Bosch AM.

Mol Genet Metab. 2013 Jul;109(3):237-42. doi: 10.1016/j.ymgme.2013.05.003. Epub 2013 May 10.

32.

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.

Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP.

J Allergy Clin Immunol. 2013 Jun;131(6):1594-603. doi: 10.1016/j.jaci.2013.01.042. Epub 2013 Mar 21.

33.

Devastating decline of forest elephants in central Africa.

Maisels F, Strindberg S, Blake S, Wittemyer G, Hart J, Williamson EA, Aba'a R, Abitsi G, Ambahe RD, Amsini F, Bakabana PC, Hicks TC, Bayogo RE, Bechem M, Beyers RL, Bezangoye AN, Boundja P, Bout N, Akou ME, Bene LB, Fosso B, Greengrass E, Grossmann F, Ikamba-Nkulu C, Ilambu O, Inogwabini BI, Iyenguet F, Kiminou F, Kokangoye M, Kujirakwinja D, Latour S, Liengola I, Mackaya Q, Madidi J, Madzoke B, Makoumbou C, Malanda GA, Malonga R, Mbani O, Mbendzo VA, Ambassa E, Ekinde A, Mihindou Y, Morgan BJ, Motsaba P, Moukala G, Mounguengui A, Mowawa BS, Ndzai C, Nixon S, Nkumu P, Nzolani F, Pintea L, Plumptre A, Rainey H, de Semboli BB, Serckx A, Stokes E, Turkalo A, Vanleeuwe H, Vosper A, Warren Y.

PLoS One. 2013;8(3):e59469. doi: 10.1371/journal.pone.0059469. Epub 2013 Mar 4.

34.

Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP.

Gérart S, Sibéril S, Martin E, Lenoir C, Aguilar C, Picard C, Lantz O, Fischer A, Latour S.

Blood. 2013 Jan 24;121(4):614-23. doi: 10.1182/blood-2012-09-456095. Epub 2012 Dec 6.

35.

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans.

Vera G, Rivera-Munoz P, Abramowski V, Malivert L, Lim A, Bole-Feysot C, Martin C, Florkin B, Latour S, Revy P, de Villartay JP.

Mol Cell Biol. 2013 Feb;33(4):701-11. doi: 10.1128/MCB.01057-12. Epub 2012 Dec 3.

36.

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes.

Marsh RA, Rao K, Satwani P, Lehmberg K, Müller I, Li D, Kim MO, Fischer A, Latour S, Sedlacek P, Barlogis V, Hamamoto K, Kanegane H, Milanovich S, Margolis DA, Dimmock D, Casper J, Douglas DN, Amrolia PJ, Veys P, Kumar AR, Jordan MB, Bleesing JJ, Filipovich AH.

Blood. 2013 Feb 7;121(6):877-83. doi: 10.1182/blood-2012-06-432500. Epub 2012 Nov 6.

37.

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C.

J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11. doi: 10.1016/j.jaci.2012.07.029. Epub 2012 Sep 15.

PMID:
22985903
38.

Use of the script concordance approach to evaluate clinical reasoning in food-ruminant practitioners.

Dufour S, Latour S, Chicoine Y, Fecteau G, Forget S, Moreau J, Trépanier A.

J Vet Med Educ. 2012 Fall;39(3):267-75. doi: 10.3138/jvme.0112-13R.

PMID:
22951462
39.

Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases.

Linka RM, Risse SL, Bienemann K, Werner M, Linka Y, Krux F, Synaeve C, Deenen R, Ginzel S, Dvorsky R, Gombert M, Halenius A, Hartig R, Helminen M, Fischer A, Stepensky P, Vettenranta K, Köhrer K, Ahmadian MR, Laws HJ, Fleckenstein B, Jumaa H, Latour S, Schraven B, Borkhardt A.

Leukemia. 2012 May;26(5):963-71. doi: 10.1038/leu.2011.371. Epub 2012 Jan 6.

PMID:
22289921
40.

Inherited defects causing hemophagocytic lymphohistiocytic syndrome.

de Saint Basile G, Ménasché G, Latour S.

Ann N Y Acad Sci. 2011 Dec;1246:64-76. doi: 10.1111/j.1749-6632.2011.06307.x.

PMID:
22236431
41.

Clinical and genetic characteristics of XIAP deficiency in Japan.

Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, van Zelm MC, Latour S, Zhao XD, Miyawaki T.

J Clin Immunol. 2012 Jun;32(3):411-20. doi: 10.1007/s10875-011-9638-z. Epub 2012 Jan 8.

PMID:
22228567
42.

Genotype-phenotype correlation in 13q13.3-q21.3 deletion.

Tosca L, Brisset S, Petit FM, Metay C, Latour S, Lautier B, Lebas A, Druart L, Picone O, Mas AE, Prévot S, Tardieu M, Goossens M, Tachdjian G.

Eur J Med Genet. 2011 Sep-Oct;54(5):e489-94. doi: 10.1016/j.ejmg.2011.06.004. Epub 2011 Jun 21.

PMID:
21741501
43.

Impact of methylation of acyl glucuronide metabolites on incurred sample reanalysis evaluation: ramiprilat case study.

Côté C, Lahaie M, Latour S, Bergeron M, Dicaire C, Savoie N, Furtado M, Garofolo F.

Bioanalysis. 2011 May;3(9):951-65. doi: 10.4155/bio.11.59.

PMID:
21545343
44.

Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.

Rigaud S, Lopez-Granados E, Sibéril S, Gloire G, Lambert N, Lenoir C, Synaeve C, Stacey M, Fugger L, Stephan JL, Fischer A, Picard C, Durandy A, Chapel H, Latour S.

Blood. 2011 Jul 14;118(2):252-61. doi: 10.1182/blood-2011-01-328849. Epub 2011 May 4.

45.

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.

46.

Determination of naproxen using DBS: evaluation & pharmacokinetic comparison of human plasma versus human blood DBS.

Youhnovski N, Michon J, Latour S, Mess JN, Bergeron A, Furtado M, Rufiange M, Guibord P, Lefebvre M, Macarthur RB, Garofolo F.

Bioanalysis. 2010 Aug;2(8):1501-13. doi: 10.4155/bio.10.51.

PMID:
21083350
47.

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB.

Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6. Erratum in: Blood. 2011 Nov 3;118(18):5060. Pachlopnick-Schmid, Jana [corrected to Pachlopnik Schmid, Jana].

48.

Efficacy of gene therapy for X-linked severe combined immunodeficiency.

Hacein-Bey-Abina S, Hauer J, Lim A, Picard C, Wang GP, Berry CC, Martinache C, Rieux-Laucat F, Latour S, Belohradsky BH, Leiva L, Sorensen R, Debré M, Casanova JL, Blanche S, Durandy A, Bushman FD, Fischer A, Cavazzana-Calvo M.

N Engl J Med. 2010 Jul 22;363(4):355-64. doi: 10.1056/NEJMoa1000164.

50.

A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly.

Zhao M, Kanegane H, Ouchi K, Imamura T, Latour S, Miyawaki T.

Haematologica. 2010 Apr;95(4):688-9. doi: 10.3324/haematol.2009.018010. Epub 2009 Dec 16. No abstract available.

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