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.
J Allergy Clin Immunol. 2021 Feb;147(2):734-737.

  

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.

Pillay BA, Fusaro M, Gray PE, Statham AL, Burnett L, Bezrodnik L, Kane A, Tong W, Abdo C, Winter S, Chevalier S, Levy R, Masson C, Schmitt Y, Bole C, Malphettes M, Macintyre E,
De Villartay JP, Ziegler JB, Smart JM, Peake J, Aghamohammadi A, Hammarström L, Abolhassani H, Picard C, Fischer A, Latour S, Neven B, Tangye SG, Ma CS.
J Clin Invest. 2021 Feb 1;131(3):e142434.

 

Heterozygous FGFR1 mutation may be responsible for an incomplete form
of osteoglophonic dysplasia, characterized only by radiolucent bone lesions
and teeth retentions.

Marzin P, Baujat G, Gensburger D, Huber C, Bole C, Panuel M, Finidori G, De la Dure M, Cormier-Daire V.
Eur J Med Genet. 2020 Feb;63(2):103729.

 

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S.
Am J Med Genet A. 2018 May;176(5):1091-1098.

 

 

BAFF and CD4+ T cells are major survival factors for long-lived splenic plasma cells
in a B-cell-depletion context.

Thai LH, Le Gallou S, Robbins A, Crickx E, Fadeev T, Zhou Z, Cagnard N, Mégret J, Bole C, Weill JC, Reynaud CA, Mahévas M.
Blood. 2018 Apr 5;131(14):1545-1555. doi: 10.1182/blood-2017-06-789578. Epub 2018 Jan 29.PMID: 29378696 

 

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria
and growth restriction.

Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschké P, Boddaert N,
Bahi-Buisson N.
Eur J Med Genet. 2018 Dec;61(12):755-758.

 

 

No correlation between mtDNA amount and methylation levels at the CpG island
of POLG exon 2 in wild-type and mutant human differentiated cells.

Steffann J, Pouliet A, Adjal H, Bole C, Fourrage C, Martinovic J, Rolland-Galmiche L, Rotig A, Tores F, Munnich A, Bonnefont JP.

J Med Genet. 2017 May;54(5):324-329. doi: 10.1136/jmedgenet-2016-104335. Epub 2017 Jan 9.PMID: 28069933

 

WDR81 mutations cause extreme microcephaly and impair mitotic progression
in human fibroblasts and Drosophila neural stem cells.

Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S, Bahi-Buisson N.

Brain. 2017 Oct 1;140(10):2597-2609.

Comprehensive Identification of Meningococcal Genes and Small Noncoding RNAs Required for Host Cell Colonization.

Capel E, Zomer AL, Nussbaumer T, Bole C, Izac B, Frapy E, Meyer J, Bouzinba-Ségard H,
Bille E, Jamet A, Cavau A, Letourneur F, Bourdoulous S, Rattei T, Nassif X, Coureuil M.

mBio. 2016 Aug 2;7(4):e01173-16.