JULIANA FOLLONI FERNANDES
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
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conferenceObject T-CELL- AND ANTIBODY-MEDIATED AUTOIMMUNE MANIFESTATIONS IN SCID DUE TO IL7RA MUTATIONS(2012) ZAGO, C. A.; JACOB, C. M. A.; DINIZ, E. M. D. A.; ZERBINI, C.; DORNA, M.; FERNANDES, J.; ROCHA, V.; OLIVEIRA, J. B.; CARNEIRO-SAMPAIO, M.Introduction: B+ SCID due to IL7Ra deficiency represents around 10% of SCID cases, and has seldom been described among Brazilian patients. Objective: We present two unrelated SCID female infants with IL7RA mutations and distinct autoimmune manifestations. Case 1: This infant was born to non-consanguineous parents at 28 weeks of gestational age presenting characteristic clinical as pects of Omenn syndrome (OS). She died after 2 days due to meconium-aspiration pneumonitis and pancarditis (with eosinophil and histiocyte infiltration). She presented leukocytosis (19,500/mm3), eosinophilia (4,860cells/mm3), lymphocytes=2,925cells/mm3 (CD3+=684cells/mm3, CD4+=345cells/mm3, CD8+=6cells/mm3, without naive T-cells, CD25+Foxp3+=2.3%, CD19+=641cells/mm 3, CD3-CD16+CD56+=280cells/mm3), thrombocytopenia=49,000/mm3, IgG=468mg/dL, IgM=45mg/dL, IgA<22mg/dL, IgE=3,310UI/ml. She harbored a homozygous p.C118Y IL7RA mutation. She is the second IL7Ra deficient OS in literature; the first described case presented the same mutation and was also Brazilian. Case 2: An 8-month-old girl presented since 4 months-old with severe thrombocytopenic purpura, treated with high IVIg doses and corticosteroids. She presented lymphocytopenia=1,287cells/mm3 (CD3=147cells/mm3, CD4=36cells/mm3, CD8=72cells/mm3), normal B (184cells/mm3, 80% withs IgM+IgD+) and NK numbers (259cells/mm3), very low TRECs, IgM=235mg/dL, IgA=51mg/dL, IgE=5UI/ml, and positive anti-nuclear antibodies (1/320). A sister with an equivalent clinical picture died at 15 months of age. She had compound heterozygous p.C118Y and p.I121NfsX8 IL7RA mutations. She did not present serious infections, and was successfully transplanted with cord blood cells at 13-months-old. Conclusions: Autoimmune diseases associated to “leaky” SCIDs due to IL7RA mutations may be mediated by both autoreactive T lymphocytes (probably in case1, an intrauterine OS) and autoantibodies (probably the predominant pathogenic mechanism in case2).conferenceObject Familial Hemophagocytic Lymphohistiocytosis Caused by Perforin Deficiency in Brazilian Twins(2012) JACOB, Cristina Miuki Abe; SANTOS, Cristiane de Jesus Nunes dos; SAINT-BASILE, Genevieve de; CASTRO, Ana Paula B. Moschione; PASTORINO, Antonio Carlos; FERNANDES, Juliana Folloni; ROCHA, Vanderson; CARNEIRO-SAMPAIO, Magda M. SalesTwo female monozygotic twins presented: Case1-at2mo presented fever and vomiting after vaccination with DTP, Haemophilus, Salk, Rotavirus. The initial evaluation showed: anemia, hepatosplenomegaly, pancytopenia, LDH=0760 U/L, ferritin=0622 ng/mL and triglycerides=0362 mg/dL. Hemophagocytosis was found in bone marrow. Case2: clinically asymptomatic, being detected anemia, LDH=0726 U/L, ferritin=0436 ng/mL, triglycerides=0166 mg/dL, without hemophagocytosis. Infections were excluded in both. Molecular testing identified two heterozygous mutations in the perforin gene, C46T leading to P16S and 50delT leading to L17 stop, making the diagnosis of FHL type 2. Both twins underwent to therapy based on HLH-2004 protocol followed by cord blood transplantation and after CMV infection with a good response to treatment. FHL should be suspected in all children with fever, visceromegaly and cytopenias for early treatment, including hematopoietic stem cell transplantation.- Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study(2021) GOUDOURIS, Ekaterini Simoes; PINTO-MARIZ, Fernanda; MENDONCA, Leonardo Oliveira; ARANDA, Carolina Sanchez; GUIMARAES, Rafaela Rolla; KOKRON, Cristina; BARROS, Myrthes Toledo; ANISIO, Flavia; ALONSO, Maria Luiza Oliva; MARCELINO, Fernanda; VALLE, Solange Oliveira Rodrigues; DORTAS JUNIOR, Sergio; BARRETO, Irma Douglas Paes; FERREIRA, Janaira Fernandes Severo; ROXO-JUNIOR, Persio; SILVA, Almerinda Maria do Rego; CAMPINHOS, Fernanda Lugao; BONFIM, Carmem; LOTH, Gisele; FERNANDES, Juliana Folloni; GARCIA, Julia Lopes; CAPELO, Albertina; TAKANO, Olga Akiko; NADAF, Maria Isabel Valdomir; TOLEDO, Eliana C.; CUNHA, Luciana Araujo Oliveira; GESU, Regina Sumiko Watanabe Di; SCHIDLOWSKI, Laire; FILLIPO, Priscila; BICHUETTI-SILVA, Danielli C.; SOLDATELI, Gustavo; FERRARONI, Natasha Reboucas; DANTAS, Ellen de Oliveira; PESTANA, Simone; MANSOUR, Eli; ULAF, Raisa Gusso; PRANDO, Carolina; CONDINO-NETO, Antonio; GRUMACH, Anete SevciovicPurpose There is still scarce data on SARS-CoV-2 infection in patients with Inborn Errors of Immunity (IEI) and many unresolved questions. We aimed to describe the clinical outcome of SARS-CoV-2 infection in Brazilian IEI patients and identify factors influencing the infection. Methods We did a cross-sectional, multicenter study that included patients of any age affected by IEI and SARS-CoV-2 infection. The variables studied were sex, age, type of IEI, comorbidities (number and type), treatment in use for IEI, clinical manifestations and severity of SARS-CoV-2 infection. Results 121 patients were included: 55.4% female, ages from six months to 74 yo (median age = 25.1 yo). Most patients had predominantly antibody deficiency (n = 53). The infection was mostly asymptomatic (n = 21) and mild (n = 66), and one child had multisystem inflammatory syndrome (MIS-C). We could not observe sex-related susceptibility, and there was a weak correlation between age and severity of infection. The number of comorbidities was higher in severe cases, particularly bronchiectasis and cardiopathy. There were no severe cases in hereditary angioedema patients. Six patients aged 2 to 74 years died, three of them with antibody deficiency. Conclusion The outcome was mild in most patients, but the Case Fatality Ratio was higher than in the general population. However, the type of IEI was not a determining factor for severity, except for complement deficiencies linked to milder COVID-19. The severity of SARS-CoV-2 infection seems to be more related to older age, a higher number of comorbidities and type of comorbidities (bronchiectasis and cardiopathy).
- Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries(2018) FERNANDES, Juliana Folloni; NICHELE, Samantha; DAUDT, Liane E.; TAVARES, Rita B.; SEBER, Adriana; KERBAUY, Fabio R.; KOLISKI, Adriana; LOTH, Gisele; VIEIRA, Ana K.; DARRIGO-JUNIOR, Luiz G.; ROCHA, Vanderson; GOMES, Alessandra A.; COLTURATO, Vergilio; MANTOVANI, Luiz F.; RIBEIRO, Andreza F.; RIBEIRO, Lisandro L.; KUWAHARA, Cilmara; RODRIGUES, Ana L. M.; ZECCHIN, Victor G.; COSTA-CARVALHO, Beatriz T.; CARNEIRO-SAMPAIO, Magda; CONDINO-NETO, Antonio; FASTH, Anders; GENNERY, Andrew; PASQUINI, Ricardo; HAMERSCHLAK, Nelson; BONFIM, CarmemThe results of hematopoietic stem cell transplant (HSCT) for primary immunodeficiency diseases (PID) have been improving over time. Unfortunately, developing countries do not experience the same results. This first report of Brazilian experience of HSCT for PID describes the development and results in the field. We included data from transplants in 221 patients, performed at 11 centers which participated in the Brazilian collaborative group, from July 1990 to December 2015. The majority of transplants were concentrated in one center (n=123). The median age at HSCT was 22months, and the most common diseases were severe combined immunodeficiency (SCID) (n=67) and Wiskott-Aldrich syndrome (WAS) (n=67). Only 15 patients received unconditioned transplants. Cumulative incidence of GVHD grades II to IV was 23%, and GVHD grades III to IV was 10%. The 5-year overall survival was 71.6%. WAS patients had better survival compared to other diseases. Most deaths (n=53) occurred in the first year after transplantation mainly due to infection (55%) and GVHD (13%). Although transplant for PID patients in Brazil has evolved since its beginning, we still face some challenges like delayed diagnosis and referral, severe infections before transplant, a limited number of transplant centers with expertise, and resources for more advanced techniques. Measures like newborn screening for SCID may hasten the diagnosis and ameliorate patients' conditions at the moment of transplant.
conferenceObject The Use of Post-Transplantation Cyclophosphamide After Alternative Donor Transplantation for the Treatment of Primary Immunodeficiencies: the Brazilian Experience(2017) BONFIM, Carmem; FERNANDES, Juliana; SEBER, Adriana; DAUDT, Liane; NICHELE, Samantha; RIBEIRO, Lisandro; LOTH, Gisele; DARRIGO JR., Luiz Guilherme; HAMERSCHLAK, Nelson; PASQUINI, Ricardo