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Items: 10

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 rhinovirus infections in a child with inherited MDA5 deficiency.

Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC.

J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12.

6.

Inflammatory spleen monocytes can upregulate CD11c expression without converting into dendritic cells.

Drutman SB, Kendall JC, Trombetta ES.

J Immunol. 2012 Apr 15;188(8):3603-10. doi: 10.4049/jimmunol.1102741. Epub 2012 Mar 21.

7.

Dendritic cells continue to capture and present antigens after maturation in vivo.

Drutman SB, Trombetta ES.

J Immunol. 2010 Aug 15;185(4):2140-6. doi: 10.4049/jimmunol.1000642. Epub 2010 Jul 19.

8.

CD8+ T cell priming by dendritic cell vaccines requires antigen transfer to endogenous antigen presenting cells.

Yewdall AW, Drutman SB, Jinwala F, Bahjat KS, Bhardwaj N.

PLoS One. 2010 Jun 16;5(6):e11144. doi: 10.1371/journal.pone.0011144.

9.

A truncated acidic domain in Xenopus TRF1.

Crumet N, Carlson RL, Drutman SB, Shampay J.

Gene. 2006 Mar 15;369:20-6. Epub 2005 Nov 23.

PMID:
16309855
10.

A novel purine nucleoside transporter whose expression is up-regulated in the short stumpy form of the Trypanosoma brucei life cycle.

Sanchez MA, Drutman S, van Ampting M, Matthews K, Landfear SM.

Mol Biochem Parasitol. 2004 Aug;136(2):265-72.

PMID:
15478805

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