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Page 1
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C. Boisson B, et al. Among authors: bossuyt x. Nat Immunol. 2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28. Nat Immunol. 2012. PMID: 23104095 Free PMC article.
Invasive pneumococcal disease in children can reveal a primary immunodeficiency.
Gaschignard J, Levy C, Chrabieh M, Boisson B, Bost-Bru C, Dauger S, Dubos F, Durand P, Gaudelus J, Gendrel D, Gras Le Guen C, Grimprel E, Guyon G, Jeudy C, Jeziorski E, Leclerc F, Léger PL, Lesage F, Lorrot M, Pellier I, Pinquier D, de Pontual L, Sachs P, Thomas C, Tissières P, Valla FV, Desprez P, Frémeaux-Bacchi V, Varon E, Bossuyt X, Cohen R, Abel L, Casanova JL, Puel A, Picard C. Gaschignard J, et al. Among authors: bossuyt x. Clin Infect Dis. 2014 Jul 15;59(2):244-51. doi: 10.1093/cid/ciu274. Epub 2014 Apr 23. Clin Infect Dis. 2014. PMID: 24759830 Free PMC article.
Lessons learned from the study of human inborn errors of innate immunity.
Bucciol G, Moens L, Bosch B, Bossuyt X, Casanova JL, Puel A, Meyts I. Bucciol G, et al. Among authors: bossuyt x. J Allergy Clin Immunol. 2019 Feb;143(2):507-527. doi: 10.1016/j.jaci.2018.07.013. Epub 2018 Aug 1. J Allergy Clin Immunol. 2019. PMID: 30075154 Free PMC article. Review.
IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens.
Maglione PJ, Simchoni N, Black S, Radigan L, Overbey JR, Bagiella E, Bussel JB, Bossuyt X, Casanova JL, Meyts I, Cerutti A, Picard C, Cunningham-Rundles C. Maglione PJ, et al. Among authors: bossuyt x. Blood. 2014 Dec 4;124(24):3561-71. doi: 10.1182/blood-2014-07-587824. Epub 2014 Oct 15. Blood. 2014. PMID: 25320238 Free PMC article. Clinical Trial.
Exome and genome sequencing for inborn errors of immunity.
Meyts I, Bosch B, Bolze A, Boisson B, Itan Y, Belkadi A, Pedergnana V, Moens L, Picard C, Cobat A, Bossuyt X, Abel L, Casanova JL. Meyts I, et al. Among authors: bossuyt x. J Allergy Clin Immunol. 2016 Oct;138(4):957-969. doi: 10.1016/j.jaci.2016.08.003. J Allergy Clin Immunol. 2016. PMID: 27720020 Free PMC article. Review.
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, McDonald D, Geha RS, Takada H, Krause JC, Creech CB, Ku CL, Ehl S, Maródi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino E, Garty BZ, Roifman C, Hara T, Yoshikawa H, Nonoyama S, Domachowske J, Issekutz AC, Tang M, Smart J, Zitnik SE, Hoarau C, Kumararatne DS, Thrasher AJ, Davies EG, Bethune C, Sirvent N, de Ricaud D, Camcioglu Y, Vasconcelos J, Guedes M, Vitor AB, Rodrigo C, Almazán F, Méndez M, Aróstegui JI, Alsina L, Fortuny C, Reichenbach J, Verbsky JW, Bossuyt X, Doffinger R, Abel L, Puel A, Casanova JL. Picard C, et al. Among authors: bossuyt x. Medicine (Baltimore). 2010 Nov;89(6):403-425. doi: 10.1097/MD.0b013e3181fd8ec3. Medicine (Baltimore). 2010. PMID: 21057262 Free PMC article.
A novel kindred with inherited STAT2 deficiency and severe viral illness.
Moens L, Van Eyck L, Jochmans D, Mitera T, Frans G, Bossuyt X, Matthys P, Neyts J, Ciancanelli M, Zhang SY, Gijsbers R, Casanova JL, Boisson-Dupuis S, Meyts I, Liston A. Moens L, et al. Among authors: bossuyt x. J Allergy Clin Immunol. 2017 Jun;139(6):1995-1997.e9. doi: 10.1016/j.jaci.2016.10.033. Epub 2017 Jan 10. J Allergy Clin Immunol. 2017. PMID: 28087227 No abstract available.
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
Spaan AN, Neehus AL, Laplantine E, Staels F, Ogishi M, Seeleuthner Y, Rapaport F, Lacey KA, Van Nieuwenhove E, Chrabieh M, Hum D, Migaud M, Izmiryan A, Lorenzo L, Kochetkov T, Heesterbeek DAC, Bardoel BW, DuMont AL, Dobbs K, Chardonnet S, Heissel S, Baslan T, Zhang P, Yang R, Bogunovic D, Wunderink HF, Haas PA, Molina H, Van Buggenhout G, Lyonnet S, Notarangelo LD, Seppänen MRJ, Weil R, Seminario G, Gomez-Tello H, Wouters C, Mesdaghi M, Shahrooei M, Bossuyt X, Sag E, Topaloglu R, Ozen S, Leavis HL, van Eijk MMJ, Bezrodnik L, Blancas Galicia L, Hovnanian A, Nassif A, Bader-Meunier B, Neven B, Meyts I, Schrijvers R, Puel A, Bustamante J, Aksentijevich I, Kastner DL, Torres VJ, Humblet-Baron S, Liston A, Abel L, Boisson B, Casanova JL. Spaan AN, et al. Among authors: bossuyt x. Science. 2022 Jun 17;376(6599):eabm6380. doi: 10.1126/science.abm6380. Epub 2022 Jun 17. Science. 2022. PMID: 35587511 Free PMC article.
377 results