FABIO FERNANDES MORATO CASTRO
Projetos de Pesquisa
Unidades Organizacionais
FM, Faculdade de Medicina
Departamento de Clínica Médica, Faculdade de Medicina - Docente
LIM/60 - Laboratório de Imunologia Clínica e Alergia, Hospital das Clínicas, Faculdade de Medicina - Líder
Departamento de Clínica Médica, Faculdade de Medicina - Docente
LIM/60 - Laboratório de Imunologia Clínica e Alergia, Hospital das Clínicas, Faculdade de Medicina - Líder
3 resultados
Resultados de Busca
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- In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation(2022) MENDONCA, Leonardo Oliveira; TOLEDO-BARROS, Myrthes Anna Maragna; LEAL, Vinicius Nunes Cordeiro; ROA, Mariela Estefany Gislene Vera; CAMBUI, Raylane Adrielle Goncalves; TOLEDO, Eliana; BARROS, Samar Freschi; OLIVEIRA, Amanda Melato de; RIVITTI-MACHADO, Maria Cecilia; FRANCESCANTONIO, Isadora Carvalho Medeiros; GRUMACH, Anete Sevciovic; PENIDO, Norma de Oliveira; CASTRO, Fabio Fernandes Morato; KALIL, Jorge; PONTILLO, AlessandraObjective: To report our five-years experience on the use of NLRP3 inflammasome functional assays in the differential diagnosis of Brazilian patients with a clinical suspicion of CAPS. Patients and methods: The study included 9 patients belonging to 2 families (I, II) and 7 unrelated patients with a clinical suspicion of AID according to Eurofever/PRINTO classification, recruited between 2017 and 2022. The control group for the NLRP3 functional assay consisted of 10 healthy donors and for the CBA cytokines measurement of 19 healthy controls. Patients underwent clinical evaluation, genetic and functional analysis. Results: All members of the family I received the diagnosis of Muckle-Wells Syndrome (MWS), carried the NLRP3 Thr348Met variant and resulted positive for the functional assay. The 2 patients of the family II resulted negative for the mutational screening but positive for the functional assay compatible with a MWS clinical phenotype. In 2 unrelated patients with NLRP3 mutations, including a novel mutation (Gly309Val, Asp303His), a positive functional test confirmed the clinical diagnosis of NOMID. 3 unrelated MWS and 1 FCAS patients resulted negative to the genetic screening and positive for the functional test. One patient with a FCAS-like phenotype harbored the NLRP12 His304Tyr variant confirming the diagnosis of FCAS2. Conclusion: The NLRP3 inflammasome functional assay can assist the clinical diagnosis of CAPS even in patients with unknown genetic defects.
- Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome(2021) MENDONCA, Leonardo Oliveira; TERRERI, Maria Teresa; OSAKU, Fabiane Mitie; BARROS, Samar Freschi; KOHLER, Karen Francine; PRADO, Alex Isidoro; BARROS, Myrthes Toledo; KALIL, Jorge; CASTRO, Fabio Fernandes MoratoBackground Mutations along PSTPIP1 gene are associated to two specific conditions, PAPA syndrome and PAMI syndrome, both autoinflammatory disorders associated to disturbances in cytoskeleton formation. Immunological aspects of PAMI syndrome has not yet been reported neither the clinical impact on therapeutical decisions. Methods Clinical data of patients records were retrospectively accessed. Genomic DNA were extracted and sequenced following standard procedures. Peripheral lymphocytes were quantified in T, B e FOXP3 phenotypes. Results We describe two related patients with PAMI syndrome harboring the usual E250K mutation. Anti-IL1 therapy could partially control the disease in the index patient. A broad spectrum of immunological effects as well as an aberrant expression of FOXP3 could be observed. Conclusions Here we report two related brazilian patients with PAMI syndromes harboring the E250K mutation in PSTPIP1, their immunological aspects and the therapeutical response to canakinumab.
- Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome(2021) MENDONCA, Leonardo Oliveira; PRADO, Alex Isidoro; COSTA, Izelda Maria Carvalho; BANDEIRA, Marcia; DYER, Rafael; BARROS, Samar Freschi; KHOLER, Karen Francine; FONSECA, Luiz Augusto Marcondes; KALIL, Jorge; CASTRO, Fabio Morato; TOLEDO-BARROS, Myrthes Anna MaragnaSince the first description of the syndrome of sideroblastic anemia with immunodeficiency, fevers and development delay (SIFD), clinical pictures lacking both neurological and hematological manifestations have been reported. Moreover, prominent skin involvement, such as with relapsing erythema nodosum, is not a common finding. Up to this moment, no genotype and phenotype correlation could be done, but mild phenotypes seem to be located in the N or C part. B-cell deficiency is a hallmark of SIFD syndrome, and multiple others immunological defects have been reported, but not high levels of double negative T cells. Here we report a Brazilian patient with a novel phenotype of SFID syndrome, carrying multiple immune defects and harboring a novel mutation on TRNT1 gene.