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848 results

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Page 1
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. Hernandez N, et al. J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24. J Exp Med. 2018. PMID: 30143481 Free PMC article.
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. Belkaya S, et al. Among authors: hernandez n. J Exp Med. 2019 Aug 5;216(8):1777-1790. doi: 10.1084/jem.20190669. Epub 2019 Jun 18. J Exp Med. 2019. PMID: 31213488 Free PMC article.
Severe influenza pneumonitis in children with inherited TLR3 deficiency.
Lim HK, Huang SXL, Chen J, Kerner G, Gilliaux O, Bastard P, Dobbs K, Hernandez N, Goudin N, Hasek ML, García Reino EJ, Lafaille FG, Lorenzo L, Luthra P, Kochetkov T, Bigio B, Boucherit S, Rozenberg F, Vedrinne C, Keller MD, Itan Y, García-Sastre A, Celard M, Orange JS, Ciancanelli MJ, Meyts I, Zhang Q, Abel L, Notarangelo LD, Snoeck HW, Casanova JL, Zhang SY. Lim HK, et al. Among authors: hernandez n. J Exp Med. 2019 Sep 2;216(9):2038-2056. doi: 10.1084/jem.20181621. Epub 2019 Jun 19. J Exp Med. 2019. PMID: 31217193 Free PMC article.
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. Hernandez N, et al. J Exp Med. 2019 Sep 2;216(9):2057-2070. doi: 10.1084/jem.20182295. Epub 2019 Jul 3. J Exp Med. 2019. PMID: 31270247 Free PMC article.
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.
Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL. Boisson-Dupuis S, et al. Among authors: hernandez n. Sci Immunol. 2018 Dec 21;3(30):eaau8714. doi: 10.1126/sciimmunol.aau8714. Sci Immunol. 2018. PMID: 30578352 Free PMC article.
Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.
Drutman SB, Mansouri D, Mahdaviani SA, Neehus AL, Hum D, Bryk R, Hernandez N, Belkaya S, Rapaport F, Bigio B, Fisch R, Rahman M, Khan T, Al Ali F, Marjani M, Mansouri N, Lorenzo-Diaz L, Emile JF, Marr N, Jouanguy E, Bustamante J, Abel L, Boisson-Dupuis S, Béziat V, Nathan C, Casanova JL. Drutman SB, et al. Among authors: hernandez n. N Engl J Med. 2020 Jan 30;382(5):437-445. doi: 10.1056/NEJMoa1910640. N Engl J Med. 2020. PMID: 31995689 Free PMC article.
Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency.
Bastard P, Manry J, Chen J, Rosain J, Seeleuthner Y, AbuZaitun O, Lorenzo L, Khan T, Hasek M, Hernandez N, Bigio B, Zhang P, Lévy R, Shrot S, Reino EJG, Lee YS, Boucherit S, Aubart M, Gijsbers R, Béziat V, Li Z, Pellegrini S, Rozenberg F, Marr N, Meyts I, Boisson B, Cobat A, Bustamante J, Zhang Q, Jouangy E, Abel L, Somech R, Casanova JL, Zhang SY. Bastard P, et al. Among authors: hernandez n. J Clin Invest. 2021 Jan 4;131(1):e139980. doi: 10.1172/JCI139980. J Clin Invest. 2021. PMID: 32960813 Free PMC article.
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. Drutman SB, et al. Proc Natl Acad Sci U S A. 2019 Sep 17;116(38):19055-19063. doi: 10.1073/pnas.1906184116. Epub 2019 Sep 4. Proc Natl Acad Sci U S A. 2019. PMID: 31484767 Free PMC article.
High-density lipoprotein mediates anti-inflammatory reprogramming of macrophages via the transcriptional regulator ATF3.
De Nardo D, Labzin LI, Kono H, Seki R, Schmidt SV, Beyer M, Xu D, Zimmer S, Lahrmann C, Schildberg FA, Vogelhuber J, Kraut M, Ulas T, Kerksiek A, Krebs W, Bode N, Grebe A, Fitzgerald ML, Hernandez NJ, Williams BR, Knolle P, Kneilling M, Röcken M, Lütjohann D, Wright SD, Schultze JL, Latz E. De Nardo D, et al. Among authors: hernandez nj. Nat Immunol. 2014 Feb;15(2):152-60. doi: 10.1038/ni.2784. Epub 2013 Dec 8. Nat Immunol. 2014. PMID: 24317040 Free PMC article.
848 results