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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. Khourieh J, et al. Among authors: zhang q. Proc Natl Acad Sci U S A. 2019 Aug 13;116(33):16463-16472. doi: 10.1073/pnas.1901409116. Epub 2019 Jul 25. Proc Natl Acad Sci U S A. 2019. PMID: 31346092 Free PMC article.
DOCK8 is critical for the survival and function of NKT cells.
Crawford G, Enders A, Gileadi U, Stankovic S, Zhang Q, Lambe T, Crockford TL, Lockstone HE, Freeman A, Arkwright PD, Smart JM, Ma CS, Tangye SG, Goodnow CC, Cerundolo V, Godfrey DI, Su HC, Randall KL, Cornall RJ. Crawford G, et al. Among authors: zhang q. Blood. 2013 Sep 19;122(12):2052-61. doi: 10.1182/blood-2013-02-482331. Epub 2013 Aug 8. Blood. 2013. PMID: 23929855 Free PMC article.
Human hyper-IgE syndrome: singular or plural?
Zhang Q, Boisson B, Béziat V, Puel A, Casanova JL. Zhang Q, et al. Mamm Genome. 2018 Aug;29(7-8):603-617. doi: 10.1007/s00335-018-9767-2. Epub 2018 Aug 9. Mamm Genome. 2018. PMID: 30094507 Free PMC article. Review.
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. Among authors: zhang sy, zhang q. 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.
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: zhang q. Sci Immunol. 2018 Dec 21;3(30):eaau8714. doi: 10.1126/sciimmunol.aau8714. Sci Immunol. 2018. PMID: 30578352 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: zhang sy, zhang q. 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.
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