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Page 1
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, Grimaldo RM, Blancas-Galicia L, Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL. Liu L, et al. J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4. J Exp Med. 2011. PMID: 21727188 Free PMC article.
[An overview of primary immunodeficiency in Mexico].
Coria Ramírez E, Espinosa Padilla S, Espinosa Rosales F, Vargas Camaño ME, Blancas Galicia L. Coria Ramírez E, et al. Rev Alerg Mex. 2010 Sep-Oct;57(5):159-63. Rev Alerg Mex. 2010. PMID: 21854726 Review. Spanish.
Salmonella vertebral osteitis and sepsis in a girl with interferon gamma pathway deficiency.
Quezada Chalita CT, Blancas Galicìa L, Jannière L, García G, Moncada Velez M, Cienfuegos D, del Río B, Casanova JL, Boisson-Dupuis S, Bustamante J, Lugo Reyes SO. Quezada Chalita CT, et al. J Investig Allergol Clin Immunol. 2012;22(4):289-91. J Investig Allergol Clin Immunol. 2012. PMID: 22812200 Free article. No abstract available.
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J. van de Vosse E, et al. Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Hum Mutat. 2013. PMID: 23864330 Free PMC article. Review.
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Vélez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramírez-Alejo N, Okada S, Kreins AY, Bryant VL, Franco JL, Migaud M, Espinosa-Padilla S, Yamazaki-Nakashimada M, Espinosa-Rosales F, Kutukculer N, Abel L, Bustamante J, Vogt G, Casanova JL, Boisson-Dupuis S. Moncada-Vélez M, et al. Blood. 2013 Oct 3;122(14):2390-401. doi: 10.1182/blood-2013-01-480814. Epub 2013 Aug 20. Blood. 2013. PMID: 23963039 Free PMC article.
69 results