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Page 1
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. Among authors: bensaid p. 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.
Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study.
Rotulo GA, Plat G, Beaupain B, Blanche S, Moushous D, Sicre de Fontbrune F, Leblanc T, Renard C, Barlogis V, Vigue MG, Freycon C, Piguet C, Pasquet M, Fieschi C, Abou-Chahla W, Gandemer V, Rialland F, Millot F, Marie-Cardine A, Paillard C, Levy P, Aladjidi N, Biosse-Duplan M, Bellanné-Chantelot C, Donadieu J; French Severe Chronic Neutropenia Registry. Rotulo GA, et al. Br J Haematol. 2021 Sep;194(5):908-920. doi: 10.1111/bjh.17695. Epub 2021 Aug 2. Br J Haematol. 2021. PMID: 34340247 Free article.
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group.
Donadieu J, Leblanc T, Bader Meunier B, Barkaoui M, Fenneteau O, Bertrand Y, Maier-Redelsperger M, Micheau M, Stephan JL, Phillipe N, Bordigoni P, Babin-Boilletot A, Bensaid P, Manel AM, Vilmer E, Thuret I, Blanche S, Gluckman E, Fischer A, Mechinaud F, Joly B, Lamy T, Hermine O, Cassinat B, Bellanné-Chantelot C, Chomienne C; French Severe Chronic Neutropenia Study Group. Donadieu J, et al. Among authors: bensaid p. Haematologica. 2005 Jan;90(1):45-53. Haematologica. 2005. PMID: 15642668
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.
Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, Dupuy A, Kerob D, Beaupain B, Bordigoni P, Fouyssac F, Delezoide AL, Devouassoux G, Nicolas JF, Bensaid P, Bertrand Y, Balabanian K, Chantelot CB, Bachelerie F, Donadieu J. Beaussant Cohen S, et al. Among authors: bensaid p. Orphanet J Rare Dis. 2012 Sep 25;7:71. doi: 10.1186/1750-1172-7-71. Orphanet J Rare Dis. 2012. PMID: 23009155 Free PMC article.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.
Ouldali N, Toubiana J, Antona D, Javouhey E, Madhi F, Lorrot M, Léger PL, Galeotti C, Claude C, Wiedemann A, Lachaume N, Ovaert C, Dumortier M, Kahn JE, Mandelcwajg A, Percheron L, Biot B, Bordet J, Girardin ML, Yang DD, Grimaud M, Oualha M, Allali S, Bajolle F, Beyler C, Meinzer U, Levy M, Paulet AM, Levy C, Cohen R, Belot A, Angoulvant F; French Covid-19 Paediatric Inflammation Consortium. Ouldali N, et al. JAMA. 2021 Mar 2;325(9):855-864. doi: 10.1001/jama.2021.0694. JAMA. 2021. PMID: 33523115 Free PMC article.
Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID-19): a multicentre cohort.
Pouletty M, Borocco C, Ouldali N, Caseris M, Basmaci R, Lachaume N, Bensaid P, Pichard S, Kouider H, Morelle G, Craiu I, Pondarre C, Deho A, Maroni A, Oualha M, Amoura Z, Haroche J, Chommeloux J, Bajolle F, Beyler C, Bonacorsi S, Carcelain G, Koné-Paut I, Bader-Meunier B, Faye A, Meinzer U, Galeotti C, Melki I. Pouletty M, et al. Among authors: bensaid p. Ann Rheum Dis. 2020 Aug;79(8):999-1006. doi: 10.1136/annrheumdis-2020-217960. Epub 2020 Jun 11. Ann Rheum Dis. 2020. PMID: 32527868 Free PMC article.
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