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Items: 8

1.

A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.

Khourieh J, Rao G, Habib T, Avery DT, Lefèvre-Utile A, Chandesris MO, Belkadi A, Chrabieh M, Alwaseem H, Grandin V, Sarrot-Reynauld F, Sénéchal A, Lortholary O, Kong XF, Boisson-Dupuis S, Picard C, Puel A, Béziat V, Zhang Q, Abel L, Molina H, Marr N, Tangye SG, Casanova JL, Boisson B.

Proc Natl Acad Sci U S A. 2019 Aug 13;116(33):16463-16472. doi: 10.1073/pnas.1901409116. Epub 2019 Jul 25.

PMID:
31346092
2.

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Hernandez N, Bucciol G, Moens L, Le Pen J, Shahrooei M, Goudouris E, Shirkani A, Changi-Ashtiani M, Rokni-Zadeh H, Sayar EH, Reisli I, Lefevre-Utile A, Zijlmans D, Jurado A, Pholien R, Drutman S, Belkaya S, Cobat A, Boudewijns R, Jochmans D, Neyts J, Seeleuthner Y, Lorenzo-Diaz L, Enemchukwu C, Tietjen I, Hoffmann HH, Momenilandi M, Pöyhönen L, Siqueira MM, de Lima SMB, de Souza Matos DC, Homma A, Maia MLS, da Costa Barros TA, de Oliveira PMN, Mesquita EC, Gijsbers R, Zhang SY, Seligman SJ, Abel L, Hertzog P, Marr N, Martins RM, Meyts I, Zhang Q, MacDonald MR, Rice CM, Casanova JL, Jouanguy E, Bossuyt X.

J Exp Med. 2019 Sep 2;216(9):2057-2070. doi: 10.1084/jem.20182295. Epub 2019 Jul 3.

PMID:
31270247
3.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2.

4.

Impact of social deprivation on length of stay for common infectious diseases in two French university-affiliated general pediatric departments.

Roussel A, Michel M, Lefevre-Utile A, De Pontual L, Faye A, Chevreul K.

Arch Pediatr. 2018 Aug;25(6):359-364. doi: 10.1016/j.arcped.2018.06.003. Epub 2018 Jul 21.

PMID:
30041884
5.

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Jackson CC, Lefèvre-Utile A, Guimier A, Malan V, Bruneau J, Gessain A, Cassar O, Amiel J, Cobat A, Rattina V, Abel L, Casanova JL, Blanche S.

Am J Med Genet A. 2017 Jul;173(7):1858-1865. doi: 10.1002/ajmg.a.38275. Epub 2017 May 9.

6.

Circulating cell-free BRAFV600E as a biomarker in children with Langerhans cell histiocytosis.

Héritier S, Hélias-Rodzewicz Z, Lapillonne H, Terrones N, Garrigou S, Normand C, Barkaoui MA, Miron J, Plat G, Aladjidi N, Pagnier A, Deville A, Gillibert-Yvert M, Moshous D, Lefèvre-Utile A, Lutun A, Paillard C, Thomas C, Jeziorski E, Nizard P, Taly V, Emile JF, Donadieu J.

Br J Haematol. 2017 Aug;178(3):457-467. doi: 10.1111/bjh.14695. Epub 2017 Apr 25.

PMID:
28444728
7.

Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease.

Gabrion A, Hmitou I, Moshous D, Neven B, Lefèvre-Utile A, Diana JS, Suarez F, Picard C, Blanche S, Fischer A, Cavazzana M, Touzot F.

J Allergy Clin Immunol. 2017 May;139(5):1641-1649.e6. doi: 10.1016/j.jaci.2016.08.033. Epub 2016 Oct 1.

PMID:
27702670
8.

Coronary artery abnormalities in children with systemic-onset juvenile idiopathic arthritis.

Lefèvre-Utile A, Galeotti C, Koné-Paut I.

Joint Bone Spine. 2014 May;81(3):257-9. doi: 10.1016/j.jbspin.2013.09.004. Epub 2014 May 1.

PMID:
24793086

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