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Page 1
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
Martínez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D, Assous MV, Abuzaitoun O, Kong XF, Pedergnana V, Deswarte C, Migaud M, Rose-John S, Itan Y, Boisson B, Belkadi A, Conti F, Abel L, Vogt G, Boisson-Dupuis S, Casanova JL, Bustamante J. Martínez-Barricarte R, et al. Among authors: pedergnana v. J Clin Immunol. 2014 Nov;34(8):904-9. doi: 10.1007/s10875-014-0085-5. Epub 2014 Aug 19. J Clin Immunol. 2014. PMID: 25135595 Free PMC article.
EVER2 deficiency is associated with mild T-cell abnormalities.
Crequer A, Picard C, Pedergnana V, Lim A, Zhang SY, Abel L, Majewski S, Casanova JL, Jablonska S, Orth G, Jouanguy E. Crequer A, et al. Among authors: pedergnana v. J Clin Immunol. 2013 Jan;33(1):14-21. doi: 10.1007/s10875-012-9749-1. Epub 2012 Aug 19. J Clin Immunol. 2013. PMID: 22903682 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: pedergnana v. 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.
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood.
Byun M, Ma CS, Akçay A, Pedergnana V, Palendira U, Myoung J, Avery DT, Liu Y, Abhyankar A, Lorenzo L, Schmidt M, Lim HK, Cassar O, Migaud M, Rozenberg F, Canpolat N, Aydogan G, Fleckenstein B, Bustamante J, Picard C, Gessain A, Jouanguy E, Cesarman E, Olivier M, Gros P, Abel L, Croft M, Tangye SG, Casanova JL. Byun M, et al. Among authors: pedergnana v. J Exp Med. 2013 Aug 26;210(9):1743-59. doi: 10.1084/jem.20130592. Epub 2013 Jul 29. J Exp Med. 2013. PMID: 23897980 Free PMC article.
Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection.
Lanternier F, Barbati E, Meinzer U, Liu L, Pedergnana V, Migaud M, Héritier S, Chomton M, Frémond ML, Gonzales E, Galeotti C, Romana S, Jacquemin E, Angoulvant A, Bidault V, Canioni D, Lachenaud J, Mansouri D, Mahdaviani SA, Adimi P, Mansouri N, Jamshidi M, Bougnoux ME, Abel L, Lortholary O, Blanche S, Casanova JL, Picard C, Puel A. Lanternier F, et al. Among authors: pedergnana v. J Infect Dis. 2015 Apr 15;211(8):1241-50. doi: 10.1093/infdis/jiu412. Epub 2014 Jul 23. J Infect Dis. 2015. PMID: 25057046 Free PMC article.
Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both.
Lanternier F, Mahdaviani SA, Barbati E, Chaussade H, Koumar Y, Levy R, Denis B, Brunel AS, Martin S, Loop M, Peeters J, de Selys A, Vanclaire J, Vermylen C, Nassogne MC, Chatzis O, Liu L, Migaud M, Pedergnana V, Desoubeaux G, Jouvion G, Chretien F, Darazam IA, Schäffer AA, Netea MG, De Bruycker JJ, Bernard L, Reynes J, Amazrine N, Abel L, Van der Linden D, Harrison T, Picard C, Lortholary O, Mansouri D, Casanova JL, Puel A. Lanternier F, et al. Among authors: pedergnana v. J Allergy Clin Immunol. 2015 Jun;135(6):1558-68.e2. doi: 10.1016/j.jaci.2014.12.1930. Epub 2015 Feb 19. J Allergy Clin Immunol. 2015. PMID: 25702837 Free PMC article.
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.
Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, İkincioğulları A, Al-Herz W, Helminen M, Doğu F, Casanova JL, Boztuğ K, Notarangelo LD. Dobbs K, et al. Among authors: pedergnana v. N Engl J Med. 2015 Jun 18;372(25):2409-22. doi: 10.1056/NEJMoa1413462. N Engl J Med. 2015. PMID: 26083206 Free PMC article.
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E. Crequer A, et al. Among authors: pedergnana v. J Clin Invest. 2012 Sep;122(9):3239-47. doi: 10.1172/JCI62949. Epub 2012 Aug 1. J Clin Invest. 2012. PMID: 22850876 Free PMC article.
Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.
Ciancanelli MJ, Huang SX, Luthra P, Garner H, Itan Y, Volpi S, Lafaille FG, Trouillet C, Schmolke M, Albrecht RA, Israelsson E, Lim HK, Casadio M, Hermesh T, Lorenzo L, Leung LW, Pedergnana V, Boisson B, Okada S, Picard C, Ringuier B, Troussier F, Chaussabel D, Abel L, Pellier I, Notarangelo LD, García-Sastre A, Basler CF, Geissmann F, Zhang SY, Snoeck HW, Casanova JL. Ciancanelli MJ, et al. Among authors: pedergnana v. Science. 2015 Apr 24;348(6233):448-53. doi: 10.1126/science.aaa1578. Epub 2015 Mar 26. Science. 2015. PMID: 25814066 Free PMC article.
38 results