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557 results

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Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M, Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana JS, Fieschi C, Galicier L, Hermine O, Lefèvre-Utile A, Malphettes M, Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay JP, Kracker S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-Ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C. Fusaro M, et al. Among authors: blanche s. J Allergy Clin Immunol. 2021 Feb;147(2):734-737. doi: 10.1016/j.jaci.2020.05.046. Epub 2020 Jun 10. J Allergy Clin Immunol. 2021. PMID: 32531373 No abstract available.
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachée-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: blanche s. Cell. 2003 Nov 14;115(4):461-73. doi: 10.1016/s0092-8674(03)00855-9. Cell. 2003. PMID: 14622600 Free article.
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency.
Laffort C, Le Deist F, Favre M, Caillat-Zucman S, Radford-Weiss I, Debré M, Fraitag S, Blanche S, Cavazzana-Calvo M, de Saint Basile G, de Villartay JP, Giliani S, Orth G, Casanova JL, Bodemer C, Fischer A. Laffort C, et al. Among authors: blanche s. Lancet. 2004 Jun 19;363(9426):2051-4. doi: 10.1016/S0140-6736(04)16457-X. Lancet. 2004. PMID: 15207958
Burkholderia pseudomallei infection in chronic granulomatous disease.
Renella R, Perez JM, Chollet-Martin S, Sarnacki S, Fischer A, Blanche S, Casanova JL, Picard C. Renella R, et al. Among authors: blanche s. Eur J Pediatr. 2006 Mar;165(3):175-7. doi: 10.1007/s00431-005-0022-y. Epub 2005 Dec 3. Eur J Pediatr. 2006. PMID: 16328364
Description of an adenovirus A31 outbreak in a paediatric haematology unit.
Leruez-Ville M, Chardin-Ouachée M, Neven B, Picard C, Le Guinche I, Fischer A, Rouzioux C, Blanche S. Leruez-Ville M, et al. Among authors: blanche s. Bone Marrow Transplant. 2006 Jul;38(1):23-8. doi: 10.1038/sj.bmt.1705389. Epub 2006 May 15. Bone Marrow Transplant. 2006. PMID: 16699529
557 results