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Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.
Kong XF, Worley L, Rinchai D, Bondet V, Jithesh PV, Goulet M, Nonnotte E, Rebillat AS, Conte M, Mircher C, Gürtler N, Liu L, Migaud M, Elanbari M, Habib T, Ma CS, Bustamante J, Abel L, Ravel A, Lyonnet S, Munnich A, Duffy D, Chaussabel D, Casanova JL, Tangye SG, Boisson-Dupuis S, Puel A. Kong XF, et al. Among authors: habib t. J Clin Immunol. 2020 Aug;40(6):807-819. doi: 10.1007/s10875-020-00803-9. Epub 2020 Jun 22. J Clin Immunol. 2020. PMID: 32572726 Free PMC article.
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL. Béziat V, et al. Among authors: habib t. Sci Immunol. 2018 Jun 15;3(24):eaat4956. doi: 10.1126/sciimmunol.aat4956. Sci Immunol. 2018. PMID: 29907691 Free PMC article.
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: habib t. 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.
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: habib t. 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.
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.
Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A. Li J, et al. Among authors: habib t. Sci Immunol. 2019 Nov 29;4(41):eaax7965. doi: 10.1126/sciimmunol.aax7965. Sci Immunol. 2019. PMID: 31784499 Free PMC article.
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: habib t. 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.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Béziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet É, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot É, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Prétet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL. Béziat V, et al. Among authors: habib t. Cell. 2021 Jul 8;184(14):3812-3828.e30. doi: 10.1016/j.cell.2021.06.004. Epub 2021 Jul 1. Cell. 2021. PMID: 34214472 Free PMC article.
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.
Guennoun A, Bougarn S, Khan T, Mackeh R, Rahman M, Al-Ali F, Ata M, Aamer W, Prosser D, Habib T, Chin-Smith E, Al-Darwish K, Zhang Q, Al-Shakaki A, Robay A, Crystal RG, Fakhro K, Al-Naimi A, Al Maslamani E, Tuffaha A, Janahi I, Janahi M, Love DR, Karim MY, Lo B, Hassan A, Adeli M, Marr N. Guennoun A, et al. Among authors: habib t. J Clin Immunol. 2021 Nov;41(8):1839-1852. doi: 10.1007/s10875-021-01115-2. Epub 2021 Aug 24. J Clin Immunol. 2021. PMID: 34427831 Free PMC article.
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.
Lévy R, Langlais D, Béziat V, Rapaport F, Rao G, Lazarov T, Bourgey M, Zhou YJ, Briand C, Moriya K, Ailal F, Avery DT, Markle J, Lim AI, Ogishi M, Yang R, Pelham S, Emam M, Migaud M, Deswarte C, Habib T, Saraiva LR, Moussa EA, Guennoun A, Boisson B, Belkaya S, Martinez-Barricarte R, Rosain J, Belkadi A, Breton S, Payne K, Benhsaien I, Plebani A, Lougaris V, Di Santo JP, Neven B, Abel L, Ma CS, Bousfiha AA, Marr N, Bustamante J, Liu K, Gros P, Geissmann F, Tangye SG, Casanova JL, Puel A. Lévy R, et al. Among authors: habib t. J Clin Invest. 2021 Sep 1;131(17):e150143. doi: 10.1172/JCI150143. J Clin Invest. 2021. PMID: 34623332 Free PMC article.
106 results