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T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25.
Blood. 2018.
PMID: 30254128
Free PMC article.
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.
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.
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Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
Asano T, Khourieh J, Zhang P, Rapaport F, Spaan AN, Li J, Lei WT, Pelham SJ, Hum D, Chrabieh M, Han JE, Guérin A, Mackie J, Gupta S, Saikia B, Baghdadi JEI, Fadil I, Bousfiha A, Habib T, Marr N, Ganeshanandan L, Peake J, Droney L, Williams A, Celmeli F, Hatipoglu N, Ozcelik T, Picard C, Abel L, Tangye SG, Boisson-Dupuis S, Zhang Q, Puel A, Béziat V, Casanova JL, Boisson B.
Asano T, et al. Among authors: khourieh j.
J Exp Med. 2021 Aug 2;218(8):e20202592. doi: 10.1084/jem.20202592. Epub 2021 Jun 17.
J Exp Med. 2021.
PMID: 34137790
Free PMC article.
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Activity inhibition and crystal polymorphism induced by active-site metal swapping.
Yekwa E, Khourieh J, Canard B, Papageorgiou N, Ferron F.
Yekwa E, et al. Among authors: khourieh j.
Acta Crystallogr D Struct Biol. 2017 Aug 1;73(Pt 8):641-649. doi: 10.1107/S205979831700866X. Epub 2017 Jul 28.
Acta Crystallogr D Struct Biol. 2017.
PMID: 28777079
Free article.
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