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Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schäffer AA, Hammarström L, Grimbacher B. Lopez-Herrera G, et al. Among authors: vitali m. Am J Hum Genet. 2012 Jun 8;90(6):986-1001. doi: 10.1016/j.ajhg.2012.04.015. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608502 Free PMC article.
BAFF-R mutations in Good's syndrome.
Lougaris V, Vitali M, Baronio M, Tampella G, Plebani A. Lougaris V, et al. Among authors: vitali m. Clin Immunol. 2014 Jul;153(1):91-3. doi: 10.1016/j.clim.2014.04.002. Epub 2014 Apr 13. Clin Immunol. 2014. PMID: 24727458 No abstract available.
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.
Abolhassani H, Vitali M, Lougaris V, Giliani S, Parvaneh N, Parvaneh L, Mirminachi B, Cheraghi T, Khazaei H, Mahdaviani SA, Kiaei F, Tavakolinia N, Mohammadi J, Negahdari B, Rezaei N, Hammarstrom L, Plebani A, Aghamohammadi A. Abolhassani H, et al. Among authors: vitali m. Expert Rev Clin Immunol. 2016;12(4):479-86. doi: 10.1586/1744666X.2016.1139451. Epub 2016 Feb 24. Expert Rev Clin Immunol. 2016. PMID: 26910880
Bruton tyrosine kinase mediates TLR9-dependent human dendritic cell activation.
Lougaris V, Baronio M, Vitali M, Tampella G, Cattalini M, Tassone L, Soresina A, Badolato R, Plebani A. Lougaris V, et al. Among authors: vitali m. J Allergy Clin Immunol. 2014 Jun;133(6):1644-50.e4. doi: 10.1016/j.jaci.2013.12.1085. Epub 2014 Mar 4. J Allergy Clin Immunol. 2014. PMID: 24612681
Profound T-cell defects in Dubowitz syndrome.
Lougaris V, Baronio M, Vitali M, Gualdi G, Tampella G, Moratto D, Cattalini M, Pilotta A, Buzi F, Calzavara-Pinton P, Plebani A. Lougaris V, et al. Among authors: vitali m. Pediatr Allergy Immunol. 2014 Aug;25(5):511-3. doi: 10.1111/pai.12238. Epub 2014 Jun 5. Pediatr Allergy Immunol. 2014. PMID: 24899539 No abstract available.
407 results