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Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, Stoven C, Souquere S, Antony-Debré I, Beaupain B, Aladjidi N, Barlogis V, Bauduer F, Bensaid P, Boespflug-Tanguy O, Berger C, Bertrand Y, Carausu L, Fieschi C, Galambrun C, Schmidt A, Journel H, Mazingue F, Nelken B, Quah TC, Oksenhendler E, Ouachée M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J. Bellanné-Chantelot C, et al. Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18. Blood. 2018. PMID: 29914977 Free PMC article.
Severe chronic primary neutropenia in adults: report on a series of 108 patients.
Sicre de Fontbrune F, Moignet A, Beaupain B, Suarez F, Galicier L, Socié G, Varet B, Coppo P, Michel M, Pautas C, Oksenhendler E, Lengline E, Terriou L, Moreau P, Chantepie S, Casadevall N, Michot JM, Gardembas M, Michallet M, Croisille L, Audrain M, Bellanné-Chantelot C, Donadieu J, Lamy T; French Severe Chronic Neutropenia Registry. Sicre de Fontbrune F, et al. Blood. 2015 Oct 1;126(14):1643-50. doi: 10.1182/blood-2015-03-634493. Epub 2015 Aug 10. Blood. 2015. PMID: 26261239 Free article.
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S, Kermasson L, Hoslin A, Jaako P, Faille A, Acevedo-Arozena A, Lengline E, Ranta D, Poirée M, Fenneteau O, Ducou le Pointe H, Fumagalli S, Beaupain B, Nitschké P, Bôle-Feysot C, de Villartay JP, Bellanné-Chantelot C, Donadieu J, Kannengiesser C, Warren AJ, Revy P. Tan S, et al. Blood. 2019 Jul 18;134(3):277-290. doi: 10.1182/blood.2018893404. Epub 2019 May 31. Blood. 2019. PMID: 31151987 Free PMC article.
Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review.
Bou Mitri F, Beaupain B, Flejou JF, Patient M, Okhremchuck I, Blaise D, Izadifar-Legrand F, Martignoles JA, Delhommeau F, Bellanne-Chantelot C, Emile JF, Donadieu J. Bou Mitri F, et al. Pediatr Blood Cancer. 2021 Jul;68(7):e29071. doi: 10.1002/pbc.29071. Epub 2021 Apr 19. Pediatr Blood Cancer. 2021. PMID: 33871916 Review.
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J. Bellanné-Chantelot C, et al. Blood. 2004 Jun 1;103(11):4119-25. doi: 10.1182/blood-2003-10-3518. Epub 2004 Feb 12. Blood. 2004. PMID: 14962902 Free article.
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.
Pasquet M, Bellanné-Chantelot C, Tavitian S, Prade N, Beaupain B, Larochelle O, Petit A, Rohrlich P, Ferrand C, Van Den Neste E, Poirel HA, Lamy T, Ouachée-Chardin M, Mansat-De Mas V, Corre J, Récher C, Plat G, Bachelerie F, Donadieu J, Delabesse E. Pasquet M, et al. Blood. 2013 Jan 31;121(5):822-9. doi: 10.1182/blood-2012-08-447367. Epub 2012 Dec 6. Blood. 2013. PMID: 23223431 Free PMC article. Clinical Trial.
Heterozygous variants of CLPB are a cause of severe congenital neutropenia.
Warren JT, Cupo RR, Wattanasirakul P, Spencer DH, Locke AE, Makaryan V, Bolyard AA, Kelley ML, Kingston NL, Shorter J, Bellanné-Chantelot C, Donadieu J, Dale DC, Link DC. Warren JT, et al. Blood. 2022 Feb 3;139(5):779-791. doi: 10.1182/blood.2021010762. Blood. 2022. PMID: 34115842 Free PMC article.
198 results