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Items: 13

1.

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S, Rapaport F, de Jong SJ, Creytens D, Tavernier SJ, Bonte K, De Schepper S, van der Werff Ten Bosch J, Lorenzo-Diaz L, Wullaert A, Bossuyt X, Orth G, Bonagura VR, Béziat V, Abel L, Jouanguy E, Reversade B, Casanova JL.

Proc Natl Acad Sci U S A. 2019 Sep 17;116(38):19055-19063. doi: 10.1073/pnas.1906184116. Epub 2019 Sep 4.

PMID:
31484767
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.

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Belkaya S, Michailidis E, Korol CB, Kabbani M, Cobat A, Bastard P, Lee YS, Hernandez N, Drutman S, de Jong YP, Vivier E, Bruneau J, Béziat V, Boisson B, Lorenzo-Diaz L, Boucherit S, Sebagh M, Jacquemin E, Emile JF, Abel L, Rice CM, Jouanguy E, Casanova JL.

J Exp Med. 2019 Aug 5;216(8):1777-1790. doi: 10.1084/jem.20190669. Epub 2019 Jun 18.

PMID:
31213488
4.

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Giliani S, Chaussabel D, Notarangelo LD, Elledge SJ, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL.

J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24.

5.

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

Regateiro FS, Belkaya S, Neves N, Ferreira S, Silvestre P, Lemos S, Venâncio M, Casanova JL, Gonçalves I, Jouanguy E, Diogo L.

Eur J Med Genet. 2017 Aug;60(8):426-432. doi: 10.1016/j.ejmg.2017.05.005. Epub 2017 May 30.

PMID:
28576691
6.

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

Belkaya S, Kontorovich AR, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lorenzo L, Boucherit S, Stoven C, Di Filippo S, Abel L, Zhang SY, Bonnet D, Gelb BD, Casanova JL.

J Am Coll Cardiol. 2017 Apr 4;69(13):1653-1665. doi: 10.1016/j.jacc.2017.01.043.

7.

Transgenic expression of microRNA-181d augments the stress-sensitivity of CD4(+)CD8(+) thymocytes.

Belkaya S, van Oers NS.

PLoS One. 2014 Jan 9;9(1):e85274. doi: 10.1371/journal.pone.0085274. eCollection 2014.

8.

Transgenic expression of microRNA-185 causes a developmental arrest of T cells by targeting multiple genes including Mzb1.

Belkaya S, Murray SE, Eitson JL, de la Morena MT, Forman JA, van Oers NS.

J Biol Chem. 2013 Oct 18;288(42):30752-62. doi: 10.1074/jbc.M113.503532. Epub 2013 Sep 6.

9.

Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.

de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, Anguiano E, Pascual MV, van Oers NSC.

Clin Immunol. 2013 Apr;147(1):11-22. doi: 10.1016/j.clim.2013.01.011. Epub 2013 Jan 30.

10.

CD81 interacts with the T cell receptor to suppress signaling.

Cevik SI, Keskin N, Belkaya S, Ozlu MI, Deniz E, Tazebay UH, Erman B.

PLoS One. 2012;7(11):e50396. doi: 10.1371/journal.pone.0050396. Epub 2012 Nov 30.

11.

The antibiotic resistance arrow of time: efflux pump induction is a general first step in the evolution of mycobacterial drug resistance.

Schmalstieg AM, Srivastava S, Belkaya S, Deshpande D, Meek C, Leff R, van Oers NS, Gumbo T.

Antimicrob Agents Chemother. 2012 Sep;56(9):4806-15. doi: 10.1128/AAC.05546-11. Epub 2012 Jul 2.

12.

Dynamic modulation of thymic microRNAs in response to stress.

Belkaya S, Silge RL, Hoover AR, Medeiros JJ, Eitson JL, Becker AM, de la Morena MT, Bassel-Duby RS, van Oers NS.

PLoS One. 2011;6(11):e27580. doi: 10.1371/journal.pone.0027580. Epub 2011 Nov 16.

13.

The CD3 zeta subunit contains a phosphoinositide-binding motif that is required for the stable accumulation of TCR-CD3 complex at the immunological synapse.

DeFord-Watts LM, Dougall DS, Belkaya S, Johnson BA, Eitson JL, Roybal KT, Barylko B, Albanesi JP, Wülfing C, van Oers NS.

J Immunol. 2011 Jun 15;186(12):6839-47. doi: 10.4049/jimmunol.1002721. Epub 2011 May 4.

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