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A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA).
Mendonça LO, Grossi A, Caroli F, de Oliveira RA, Kalil J, Castro FFM, Pontillo A, Ceccherini I, Barros MAMT, Gattorno M. Mendonça LO, et al. Among authors: castro ffm. Pediatr Rheumatol Online J. 2020 Aug 20;18(1):67. doi: 10.1186/s12969-020-00454-5. Pediatr Rheumatol Online J. 2020. PMID: 32819369 Free PMC article.
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus.
Steiner A, Reygaerts T, Pontillo A, Ceccherini I, Moecking J, Moghaddas F, Davidson S, Caroli F, Grossi A, Castro FFM, Kalil J, Gohr FN, Schmidt FI, Bartok E, Zillinger T, Hartmann G, Geyer M, Gattorno M, Mendonça LO, Masters SL. Steiner A, et al. Among authors: castro ffm. J Clin Immunol. 2022 Feb;42(2):325-335. doi: 10.1007/s10875-021-01175-4. Epub 2021 Nov 16. J Clin Immunol. 2022. PMID: 34783940 Free PMC article.
In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation.
Mendonça LO, Toledo-Barros MAM, Leal VNC, Roa MEGV, Cambuí RAG, Toledo E, Barros SF, de Oliveira AM, Rivitti-Machado MC, Francescantonio ICM, Grumach AS, de Oliveira Penido N, Castro FFM, Kalil J, Pontillo A. Mendonça LO, et al. Among authors: castro ffm. Clin Immunol. 2022 Dec;245:109159. doi: 10.1016/j.clim.2022.109159. Epub 2022 Oct 13. Clin Immunol. 2022. PMID: 36244670
25 results