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Page 1
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. Hauck F, et al. Among authors: touzot f. J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11. doi: 10.1016/j.jaci.2012.07.029. Epub 2012 Sep 15. J Allergy Clin Immunol. 2012. PMID: 22985903
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. Pachlopnik Schmid J, et al. Among authors: touzot f. Blood. 2011 Feb 3;117(5):1522-9. doi: 10.1182/blood-2010-07-298372. Epub 2010 Nov 30. Blood. 2011. PMID: 21119115 Free article.
Adenoviral infection presenting as an isolated central nervous system disease without detectable viremia in two children after stem cell transplantation.
Frange P, Peffault de Latour R, Arnaud C, Boddaert N, Oualha M, Avettand-Fenoel V, Bernaudin F, Aguilar C, Barnerias C, Leruez-Ville M, Touzot F, Lortholary O, Fischer A, Blanche S. Frange P, et al. Among authors: touzot f. J Clin Microbiol. 2011 Jun;49(6):2361-4. doi: 10.1128/JCM.00080-11. Epub 2011 Apr 13. J Clin Microbiol. 2011. PMID: 21490187 Free PMC article.
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C. Ouederni M, et al. Among authors: touzot f. Blood. 2011 Nov 10;118(19):5108-18. doi: 10.1182/blood-2011-05-352716. Epub 2011 Sep 8. Blood. 2011. PMID: 21908431 Free article.
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.
Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Pïcard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P. Mokrani-Benhelli H, et al. Among authors: touzot f. Hum Mutat. 2013 Feb;34(2):374-84. doi: 10.1002/humu.22245. Epub 2012 Dec 20. Hum Mutat. 2013. PMID: 23111928
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: touzot f. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
73 results