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Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.
Stasia MJ, Lardy B, Maturana A, Rousseau P, Martel C, Bordigoni P, Demaurex N, Morel F. Stasia MJ, et al. Among authors: bordigoni p. Biochim Biophys Acta. 2002 Apr 24;1586(3):316-30. doi: 10.1016/s0925-4439(01)00110-7. Biochim Biophys Acta. 2002. PMID: 11997083 Free article.
Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
Martel C, Mollin M, Beaumel S, Brion JP, Coutton C, Satre V, Vieville G, Callanan M, Lefebvre C, Salmon A, Pagnier A, Plantaz D, Bost-Bru C, Eitenschenck L, Durieu I, Floret D, Galambrun C, Chambost H, Michel G, Stephan JL, Hermine O, Blanche S, Blot N, Rubié H, Pouessel G, Drillon-Haus S, Conrad B, Posfay-Barbe KM, Havlicekova Z, Voskresenky-Baricic T, Jadranka K, Arriazu MC, Garcia LA, Sfaihi L, Bordigoni P, Stasia MJ. Martel C, et al. Among authors: bordigoni p. J Clin Immunol. 2012 Oct;32(5):942-58. doi: 10.1007/s10875-012-9698-8. Epub 2012 May 5. J Clin Immunol. 2012. PMID: 22562447
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.
Jouanguy E, Dupuis S, Pallier A, Döffinger R, Fondanèche MC, Fieschi C, Lamhamedi-Cherradi S, Altare F, Emile JF, Lutz P, Bordigoni P, Cokugras H, Akcakaya N, Landman-Parker J, Donnadieu J, Camcioglu Y, Casanova JL. Jouanguy E, et al. Among authors: bordigoni p. J Clin Invest. 2000 May;105(10):1429-36. doi: 10.1172/JCI9166. J Clin Invest. 2000. PMID: 10811850 Free PMC article.
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. Among authors: bordigoni p. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
247 results