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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: badolato r. 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.
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A. Ferrari S, et al. Among authors: badolato r. Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12614-9. doi: 10.1073/pnas.221456898. Proc Natl Acad Sci U S A. 2001. PMID: 11675497 Free PMC article.
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation.
Tommasini A, Ferrari S, Moratto D, Badolato R, Boniotto M, Pirulli D, Notarangelo LD, Andolina M. Tommasini A, et al. Among authors: badolato r. Clin Exp Immunol. 2002 Oct;130(1):127-30. doi: 10.1046/j.1365-2249.2002.01940.x. Clin Exp Immunol. 2002. PMID: 12296863 Free PMC article.
Functional defects of dendritic cells in patients with CD40 deficiency.
Fontana S, Moratto D, Mangal S, De Francesco M, Vermi W, Ferrari S, Facchetti F, Kutukculer N, Fiorini C, Duse M, Das PK, Notarangelo LD, Plebani A, Badolato R. Fontana S, et al. Among authors: badolato r. Blood. 2003 Dec 1;102(12):4099-106. doi: 10.1182/blood-2003-04-1244. Epub 2003 Jul 31. Blood. 2003. PMID: 12893749 Free article.
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome.
Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, Imberti L, Pirovano S, Notarangelo LD, Soresina R, Mazzolari E, Nelson DL, Notarangelo LD, Badolato R. Gulino AV, et al. Among authors: badolato r. Blood. 2004 Jul 15;104(2):444-52. doi: 10.1182/blood-2003-10-3532. Epub 2004 Mar 16. Blood. 2004. PMID: 15026312 Free article.
246 results