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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Progressive severe B cell deficiency in pediatric Rubinstein-Taybi syndrome.
Lougaris V, Facchini E, Baronio M, Lorenzini T, Moratto D, Specchia F, Plebani A. Lougaris V, et al. Among authors: lorenzini t. Clin Immunol. 2016 Dec;173:181-183. doi: 10.1016/j.clim.2016.10.019. Epub 2016 Nov 5. Clin Immunol. 2016. PMID: 27825976 No abstract available.
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.
Lougaris V, Chou J, Baronio M, Gazzurelli L, Lorenzini T, Soresina A, Moratto D, Badolato R, Seleman M, Bellettato M, Geha RS, Plebani A. Lougaris V, et al. Among authors: lorenzini t. Clin Immunol. 2018 Mar;188:20-22. doi: 10.1016/j.clim.2017.11.008. Epub 2017 Nov 21. Clin Immunol. 2018. PMID: 29170023 No abstract available.
A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.
Lougaris V, Baronio M, Gazzurelli L, Lorenzini T, Fuoti M, Moratto D, Bozzola A, Ricci C, Bondioni MP, Ravelli A, Villanacci V, Plebani A. Lougaris V, et al. Among authors: lorenzini t. Clin Immunol. 2018 Dec;197:186-188. doi: 10.1016/j.clim.2018.10.007. Epub 2018 Oct 13. Clin Immunol. 2018. PMID: 30326257 No abstract available.
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.
Lougaris V, Chou J, Beano A, Wallace JG, Baronio M, Gazzurelli L, Lorenzini T, Moratto D, Tabellini G, Parolini S, Seleman M, Stafstrom K, Xu H, Harris C, Geha RS, Plebani A. Lougaris V, et al. Among authors: lorenzini t. J Allergy Clin Immunol. 2019 Apr;143(4):1649-1653.e3. doi: 10.1016/j.jaci.2019.01.001. Epub 2019 Jan 14. J Allergy Clin Immunol. 2019. PMID: 30654050 No abstract available.
34 results