JULIANA FOLLONI FERNANDES

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Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina

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  • article 82 Citação(ões) na Scopus
    Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults
    (2020) CHIESA, Robert; WANG, Junfeng; BLOK, Henric-Jan; HAZELAAR, Sheree; NEVEN, Benedicte; MOSHOUS, Despina; SCHULZ, Ansgar; HOENIG, Manfred; HAUCK, Fabian; SERAIHY, Amal Al; GOZDZIK, Jolanta; LJUNGMAN, Per; LINDEMANS, Caroline A.; FERNANDES, Juliana F.; KALWAK, Krzysztof; STRAHM, Brigitte; SCHANZ, Urs; SEDLACEK, Petr; SYKORA, Karl-Walter; AKSOYLAR, Serap; LOCATELLI, Franco; STEPENSKY, Polina; WYNN, Robert; LURN, Su Han; ZECCA, Marco; PORTA, Fulvio; TASKINEN, Mervi; GIBSON, Brenda; MATTHES, Susanne; KARAKUKCU, Musa; HAURI-HOHL, Mathias; VEYS, Paul; GENNERY, Andrew R.; LUCCHINI, Giovanna; FELBER, Matthias; ALBERT, Michael H.; BALASHOV, Dmitry; LANKESTER, Arjan; GUNGOR, Tayfun; SLATTER, Mary A.
    Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting in life-threatening infections and inflammatory complications. Allogeneic hematopoietic cell transplantation (allo-HCT) can cure the disease, but the indication to transplant remains controversial. We performed a retrospective multicenter study of 712 patients with CGD who underwent allo-HCT transplantation from March 1993 through December 2018. We studied 635 children (aged <18 years) and 77 adults. Median follow-up was 45 months. Median age at transplantation was 7 years (range, 0.1-48.6). Kaplan-Meier estimates of overall survival (OS) and event-free survival (EFS) at 3 years were 85.7% and 75.8%, respectively. In multivariate analysis, older age was associated with reduced survival and increased chronic graft-versus-host disease. Nevertheless, OS and EFS at 3 years for patients >= 18 years were 76% and 69%, respectively. Use of 1-antigen-mismatched donors was associated with reduced OS and EFS . No significant difference was found in OS, but a significantly reduced EFS was noted in the small group of patients who received a transplant from a donor with a >1 antigen mismatch. Choice of conditioning regimen did not influence OS or EFS. In summary, we report an excellent outcome after allo-HCT in CGD, with low incidence of graft failure and mortality in all ages. Older patients and recipients of 1-antigen-mismatched grafts had a less favorable outcome. Transplantation should be strongly considered at a younger age and particularly in the presence of a well-matched donor.
  • 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. Sales
    Two 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.
  • article 294 Citação(ões) na Scopus
    Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study
    (2014) GUENGOER, Tayfun; TEIRA, Pierre; SLATTER, Mary; STUESSI, Georg; STEPENSKY, Polina; MOSHOUS, Despina; VERMONT, Clementien; AHMAD, Imran; SHAW, Peter J.; CUNHA, Jose Marcos Telles da; SCHLEGEL, Paul G.; HOUGH, Rachel; FASTH, Anders; KENTOUCHE, Karim; GRUHN, Bernd; FERNANDES, Juliana F.; LACHANCE, Silvy; BREDIUS, Robbert; RESNICK, Igor B.; BELOHRADSKY, Bernd H.; GENNERY, Andrew; FISCHER, Alain; GASPAR, H. Bobby; SCHANZ, Urs; SEGER, Reinhard; RENTSCH, Katharina; VEYS, Paul; HADDAD, Elie; ALBERT, Michael H.; HASSAN, Moustapha
    Background In chronic granulomatous disease allogeneic haemopoietic stem-cell transplantation (HSCT) in adolescents and young adults and patients with high-risk disease is complicated by graft-failure, graft-versus-host disease (GVHD), and transplant-related mortality. We examined the effect of a reduced-intensity conditioning regimen designed to enhance myeloid engraftment and reduce organ toxicity in these patients. Methods This prospective study was done at 16 centres in ten countries worldwide. Patients aged 0-40 years with chronic granulornatous disease were assessed and enrolled at the discretion of individual centres. Reduced-intensity conditioning consisted of high-dose fludarabine (30 mg/m2 [infants <9 kg 1-2 mg/kg]; one dose per day on days 8 to 3), serotherapy (anti-thymocyte globulin [10 mg/kg, one dose per day on days 4 to 1; or thymoglobuline 2-5 mg/kg, one dose per day on days 5 to 3]; or low-dose alerntuzurnab [<1 mg/kg on days 8 to 6]), and low-dose (50-72% of myeloablative dose) or targeted busulfan administration (recommended cumulative area under the curve: 45-65 mg/L xh). Busulfan was administered mainly intravenously and exceptionally orally from days 5 to 3. Intravenous busulfan was dosed according to weight-based recommendations and was administered in most centres (ten) twice daily over 4 h. Unmanipulated bone marrow or peripheral blood stem cells from HLA-matched relateddonors or HLA-9/10 or HLA-10/10 matched unrelated-donors were infused. The primary endpoints were overall survival and event-free survival (EFS), probabilities of overall survival and EFS at 2 years, incidence of acute and chronic GVHD, achievement of at least 90% myeloid donor chimerisrn, and incidence of graft failure after at least 6 months of follow-up. Findings 56 patients (median age 12-7 years; IQR 6-8-17-3) with chronic granulornatous disease were enrolled from June 15,2003, to Dec 15,2012.42 patients (75%) had high-risk features (ie, intractable infections and autoinflammation), 25(45%) were adolescents and young adults (age 14-39 years). 21 HLA-matched related-donor and 35 HLA-rnatched unrelated-donor transplants were done. Median time to engraftrnent was 19 days (IQR 16-22) for neutrophils and 21 days (IQR 16-25) for platelets. At median follow-up of 21 months (IQR 13-35) overall survival was 93% (52 of 56) and EFS was 89% (50 of 56). The 2-year probability of overall survival was 96% (95% CI 86-46-99.09) and of EFS was 91% (79-78-96-17). Graft-failure occurred in 5% (three of 56) of patients. The cumulative incidence of acute GVHD of grade III IV was 4% (two of 56) and of chronic graft-versus-host disease was 7% (four of 56). Stable (90%) myeloid donor chimerism was documented in 52 (93%) surviving patients. Interpretation This reduced-intensity conditioning regimen is safe and efficacious in high-risk patients with chronic granulomatous disease.
  • article 224 Citação(ões) na Scopus
    Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
    (2018) BARZAGHI, Federica; HERNANDEZ, Laura Cristina Amaya; NEVEN, Benedicte; RICCI, Silvia; KUCUK, Zeynep Yesim; BLEESING, Jack J.; NADEMI, Zohreh; SLATTER, Mary Anne; ULLOA, Erlinda Rose; SHCHERBINA, Anna; ROPPELT, Anna; WORTH, Austen; SILVA, Juliana; AIUTI, Alessandro; MURGUIA-FAVELA, Luis; SPECKMANN, Carsten; CARNEIRO-SAMPAIO, Magda; FERNANDES, Juliana Folloni; BARIS, Safa; OZEN, Ahmet; KARAKOC-AYDINER, Elif; KIYKIM, Ayca; SCHULZ, Ansgar; STEINMANN, Sandra; NOTARANGELO, Lucia Dora; GAMBINERI, Eleonora; LIONETTI, Paolo; SHEARER, William Thomas; FORBES, Lisa R.; MARTINEZ, Caridad; MOSHOUS, Despina; BLANCHE, Stephane; FISHER, Alain; RUEMMELE, Frank M.; TISSANDIER, Come; OUACHEE-CHARDIN, Marie; RIEUX-LAUCAT, Frederic; CAVAZZANA, Marina; QASIM, Waseem; LUCARELLI, Barbarella; ALBERT, Michael H.; KOBAYASHI, Ichiro; ALONSO, Laura; HEREDIA, Cristina Diaz De; KANEGANE, Hirokazu; LAWITSCHKA, Anita; SEO, Jong Jin; GONZALEZ-VICENT, Marta; DIAZ, Miguel Angel; GOYAL, Rakesh Kumar; SAUER, Martin G.; YESILIPEK, Akif; KIM, Minsoo; YILMAZ-DEMIRDAG, Yesim; BHATIA, Monica; KHLEVNER, Julie; PADILLA, Erick J. Richmond; MARTINO, Silvana; MONTIN, Davide; NETH, Olaf; MOLINOS-QUINTANA, Agueda; VALVERDE-FERNANDEZ, Justo; BROIDES, Arnon; PINSK, Vered; BALLAUF, Antje; HAERYNCK, Filomeen; BORDON, Victoria; DHOOGE, Catharina; GARCIA-LLORET, Maria Laura; BREDIUS, Robbert G.; KAWAK, Krzysztof; HADDAD, Elie; SEIDEL, Markus Gerhard; DUCKERS, Gregor; PAI, Sung-Yun; DVORAK, Christopher C.; EHL, Stephan; LOCATELLI, Franco; GOLDMAN, Frederick; GENNERY, Andrew Richard; COWAN, Mort J.; RONCAROLO, Maria-Grazia; BACCHETTA, Rosa
    Background: Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. Objective: This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. Methods: Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed. Results: We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n 5 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS. Conclusions: Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term.disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.
  • article 93 Citação(ões) na Scopus
    Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?
    (2012) FERNANDES, Juliana F.; ROCHA, Vanderson; LABOPIN, Myriam; NEVEN, Benedicte; MOSHOUS, Despina; GENNERY, Andrew R.; FRIEDRICH, Wilhelm; PORTA, Fulvio; HEREDIA, Cristina Diaz de; WALL, Donna; BERTRAND, Yves; VEYS, Paul; SLATTER, Mary; SCHULZ, Ansgar; CHAN, Ka Wah; GRIMLEY, Michael; AYAS, Mouhab; GUNGOR, Tayfun; EBELL, Wolfram; BONFIM, Carmem; KALWAK, Krzysztof; TAUPIN, Pierre; BLANCHE, Stephane; GASPAR, H. Bobby; LANDAIS, Paul; FISCHER, Alain; GLUCKMAN, Eliane; CAVAZZANA-CALVO, Marina
    Pediatric patients with SCID constitute medical emergencies. In the absence of an HLA-identical hematopoietic stem cell (HSC) donor, mismatched related-donor transplantation (MMRDT) or unrelated-donor umbilical cord blood transplantation (UCBT) are valuable treatment options. To help transplantation centers choose the best treatment option, we retrospectively compared outcomes after 175 MMRDTs and 74 UCBTs in patients with SCID or Omenn syndrome. Median follow-up time was 83 months and 58 months for UCBT and MMRDT, respectively. Most UCB recipients received a myeloablative conditioning regimen; most MMRDT recipients did not. UCB recipients presented a higher frequency of complete donor chimerism (P = .04) and faster total lymphocyte count recovery (P = .04) without any statistically significance with the preparative regimen they received. The MMRDT and UCBT groups did not differ in terms of T-cell engraftment, CD4(+) and CD3(+) cell recoveries, while Ig replacement therapy was discontinued sooner after UCBT (adjusted P = .02). There was a trend toward a greater incidence of grades II-IV acute GVHD (P = .06) and more chronic GVHD (P = .03) after UCBT. The estimated 5-year overall survival rates were 62% +/- 4% after MMRDT and 57% +/- 6% after UCBT. For children with SCID and no HLA-identical sibling donor, both UCBT and MMRDT represent available HSC sources for transplantation with quite similar outcomes. (Blood. 2012;119(12):2949-2955)