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
3 resultados
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- Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias(2014) ZAGO, Claudia Augusta; JACOB, Cristina Miuki Abe; DINIZ, Edna Maria de Albuquerque; LOVISOLO, Silvana Maria; ZERBINI, Maria Claudia Nogueira; DORNA, Mayra; WATANABE, Leticia; FERNANDES, Juliana Folloni; ROCHA, Vanderson; OLIVEIRA, Joao Bosco; CARNEIRO-SAMPAIO, MagdaB+NK+SCID (severe combined immunodeficiency) due to IL7R alpha deficiency represents approximately 10% of American SCID cases. To better understand the spectrum of autoimmune disorders associated with IL7R alpha deficiency, we describe two unrelated IL7R alpha-deficient female SCID infants whose clinical picture was dominated by autoimmune manifestations: one with intrauterine Omenn syndrome (OS) and another with persistent thrombocytopenic purpura since 4 months of age. The OS baby harbored a homozygous p.C118Y mutation in IL7R. She presented dense eosinophilic infiltrates in several organs, including pancarditis, which may have contributed to her death (on the 2nd day of life). B cells were observed in lymph nodes, spleen, bone marrow and thymus. The second patient harbored compound heterozygous p.01 8Y and p.I121NfsX8 mutations. She underwent a successful unrelated cord blood transplant. In conclusion, early OS can be observed in patients with IL7R mutations, and autoimmune cytopenias could also complicate the clinical course of SCID babies with this type of defect. (C) 2014 Published by Elsevier Inc. on behalf of American Society for Histocompatibility and Immunogenetics.
- 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, MoustaphaBackground 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.
- T-Cell-Replete Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Patients with X-Linked Adrenoleukodystrophy: An Immediate Choice for an Urgent Situation(2014) FERNANDES, Juliana; BONFIM, Carmem; KERBAUY, Fabio R.; RODRIGUES, Morgani; ALMEIDA, Alessandro de Moura; ESTEVES, Iracema; KUTNER, Jose Mauro; RIBEIRO, Andreza Feitosa; KOK, Fernando; HAMERSCHLAK, Nelson