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Page 1
A human inborn error connects the α's.
Meyts I, Casanova JL. Meyts I, et al. Among authors: casanova jl. Nat Immunol. 2016 May;17(5):472-4. doi: 10.1038/ni.3420. Nat Immunol. 2016. PMID: 27092795 No abstract available.
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: casanova jl. 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.
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S. Zhang X, et al. Among authors: casanova jl. Nature. 2015 Jan 1;517(7532):89-93. doi: 10.1038/nature13801. Epub 2014 Oct 12. Nature. 2015. PMID: 25307056 Free PMC article.
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: casanova jl. 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.
The mutation significance cutoff: gene-level thresholds for variant predictions.
Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Stenson PD, Gleeson J, Cooper DN, Quintana-Murci L, Zhang SY, Abel L, Casanova JL. Itan Y, et al. Among authors: casanova jl. Nat Methods. 2016 Feb;13(2):109-10. doi: 10.1038/nmeth.3739. Nat Methods. 2016. PMID: 26820543 Free PMC article. No abstract available.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Among authors: casanova jl. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
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: casanova jl. 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.
1,015 results