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ICON: the early diagnosis of congenital immunodeficiencies.
Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson T. Routes J, et al. Among authors: le deist f. J Clin Immunol. 2014 May;34(4):398-424. doi: 10.1007/s10875-014-0003-x. Epub 2014 Mar 12. J Clin Immunol. 2014. PMID: 24619621 Review.
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD. Lee YN, et al. J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28. J Allergy Clin Immunol. 2014. PMID: 24290284 Free PMC article.
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.
Bégin P, Patey N, Mueller P, Rasquin A, Sirard A, Klein C, Haddad E, Drouin É, Le Deist F. Bégin P, et al. Among authors: le deist f. J Clin Immunol. 2013 Apr;33(3):520-5. doi: 10.1007/s10875-012-9833-6. Epub 2012 Nov 20. J Clin Immunol. 2013. PMID: 23180359
ZAP70: a master regulator of adaptive immunity.
Fischer A, Picard C, Chemin K, Dogniaux S, le Deist F, Hivroz C. Fischer A, et al. Among authors: le deist f. Semin Immunopathol. 2010 Jun;32(2):107-16. doi: 10.1007/s00281-010-0196-x. Epub 2010 Feb 5. Semin Immunopathol. 2010. PMID: 20135127 Review.
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Giliani S, Mori L, de Saint Basile G, Le Deist F, Rodriguez-Perez C, Forino C, Mazzolari E, Dupuis S, Elhasid R, Kessel A, Galambrun C, Gil J, Fischer A, Etzioni A, Notarangelo LD. Giliani S, et al. Among authors: le deist f. Immunol Rev. 2005 Feb;203:110-26. doi: 10.1111/j.0105-2896.2005.00234.x. Immunol Rev. 2005. PMID: 15661025 Review.
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S. McCarl CA, et al. J Allergy Clin Immunol. 2009 Dec;124(6):1311-1318.e7. doi: 10.1016/j.jaci.2009.10.007. J Allergy Clin Immunol. 2009. PMID: 20004786 Free PMC article.
288 results