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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Assunto: bone-marrow-transplantation ×

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Agora exibindo 1 - 10 de 11
  • article 8 Citação(ões) na Scopus
    Lomentospora prolificans fungemia in hematopoietic stem cell transplant patients: First report in South America and literature review
    (2018) PENTEADO, Fernando D.; LITVINOV, Nadia; SZTAJNBOK, Jaques; THOMAZ, Danilo Y.; SANTOS, Antonio M. dos; VASCONCELOS, Dewton M.; MOTTA, Adriana L.; ROSSI, Flavia; FERNANDES, Juliana F.; MARQUES, Heloisa Helena S.; BENARD, Gil; ALMEIDA JR., Joao N. de
    Lomentospora prolificans is a filamentous fungus and an emerging pathogen in immunocompromised patients. It is encountered most commonly in Australia, Spain, and USA. We described the first case of Lomentospora prolificans fungemia in South America. The patient was a hematopoietic stem cell transplantation (HSCT) recipient who developed the infection 37days after stem cells infusion. In addition, we performed a literature review of invasive lomentosporiosis in HSCT patients.
  • article 3 Citação(ões) na Scopus
    Allogeneic Hematopoietic Stem Cell Transplantation for Children and Adolescents with Acute Myeloid Leukemia in Brazil: A Multicentric Retrospective Study
    (2020) RODRIGUES, Ana Luiza de Melo; BONFIM, Carmem; SEBER, Adriana; COLTURATO, Vergilio Antonio Rensi; ZECCHIN, Victor Gottardello; NICHELE, Samantha; DAUDT, Liane Esteves; FERNANDES, Juliana Folloni; VIEIRA, Ana Karine; DARRIGO JUNIOR, Luiz Guilherme; GOMES, Alessandra Araujo; ARCURI, Leonardo; LENZI, Luana; PICHARSKI, Gledson Luiz; RIBEIRO, Raul Correa; FIGUEIREDO, Bonald Cavalcante de
    The survival rates of children with high-risk acute myeloid leukemia (AML) treated with hematopoietic stem cell transplant (HSCT) range from 60% to 70% in high-income countries. The corresponding rate for Brazilian children with AML who undergo HSCT is unknown. We conducted a retrospective analysis of 114 children with AML who underwent HSCT between 2008 and 2012 at institutions participating in the Brazilian Pediatric Bone Marrow Transplant Working Group. At transplant, 38% of the children were in first complete remission (CR1), 37% were in CR2, and 25% were in CR3+ or had persistent disease. The donors included 49 matched-related, 59 matched-unrelated, and six haploidentical donors. The most frequent source of cells was bone marrow (69%), followed by the umbilical cord (19%) and peripheral blood (12%). The 4-year overall survival was 47% (95% confidence interval [CI] 30%-57%), and the 4-year progression-free survival was 40% (95% CI 30%-49%). Relapse occurred in 49 patients, at a median of 122 days after HSCT. There were 65 deaths: 40 related to AML, 19 to infection, and six to graft versus host disease. In conclusion, our study suggests that HSCT outcomes for children with AML in CR1 or CR2 are acceptable and that this should be considered in the overall treatment planning for children with AML in Brazil. Therapeutic standardization through the adoption of multicentric protocols and appropriate supportive care treatment will have a significant impact on the results of HSCT for AML in Brazil and possibly in other countries with limited resources.
  • article 4 Citação(ões) na Scopus
    Impact of mother donor, peripheral blood stem cells and measurable residual disease on outcomes after haploidentical hematopoietic cell transplantation with post-transplant cyclophosphamide in children with acute leukaemia
    (2021) ROCHA, V; ARCURI, L. J.; SEBER, A.; COLTURATO, V; ZECCHIN, V. G.; KUWAHARA, C.; NICHELE, S.; GOUVEIA, R.; FERNANDES, J. F.; V, A. Macedo; TAVARES, R.; DAUDT, L.; SOUZA, M. P. De; DARRIGO-JR, L. G.; VILLELA, N. C.; MARIANO, L. C. B.; GINANI, V. C.; ZANETTE, A.; LOTH, G.; GOMES, A. A.; HAMERSCHLAK, N.; FLOWERS, M. E.; BONFIM, C.
    Haploidentical hematopoietic-cell transplantation using post-transplant cyclophosphamide(Haplo-PTCy) is a feasible procedure in children with haematologic malignancies. However, data of a large series of children with acute leukaemia(AL) in this setting is missing. We analysed 144 AL Haplo-PTCy paediatric recipients; median age was 10 years. Patients had acute lymphoblastic(ALL; n = 86) or myeloblastic leukaemia(AML; n = 58) and were transplanted in remission(CR1: n = 40; CR2: n = 57; CR3+: n = 27) or relapse (n = 20). Bone marrow was the graft source in 57%; donors were father (54%), mother (35%), or sibling (11%). Myeloablative conditioning was used in 87%. Median follow-up was 31 months. At day +100, cumulative incidence (CI) of neutrophil recovery and acute GVHD (II-IV) were 94% and 40%, respectively. At 2-years, CI of chronic GVHD and relapse, were 31%, 40%, and estimated 2-year overall survival (OS), leukaemia-free survival (LFS) and graft-versus-host-relapse-free survival (GRFS) were 52%, 44% and 34% respectively. For patients transplanted in remission, positive measurable residual disease (MRD) prior to transplant was associated with decreased LFS (p = 0.05) and GRFS (p = 0.003) and increased risk of relapse (p = 0.02). Mother donor was associated with increased risk of chronic GVHD (p = 0.001), decreased OS (p = 0.03) and GRFS (p = 0.004). Use of PBSC was associated with increased risk of chronic GVHD (p = 0.04). In conclusion, achieving MRD negativity pre-transplant, avoiding use of mother donors and PBSC as graft source may improve outcomes of Haplo-PTCy in children with AL.
  • article 33 Citação(ões) na Scopus
    Outcomes after Haploidentical Stem Cell Transplantation with Post-Transplantation Cyclophosphamide in Patients with Primary Immunodeficiency Diseases
    (2020) FERNANDES, Juliana Folloni; NICHELE, Samantha; ARCURI, Leonardo Javier; RIBEIRO, Lisandro; ZAMPERLINI-NETTO, Gabriele; LOTH, Gisele; RODRIGUES, Ana Luiza Melo; KUWAHARA, Cilmara; KOLISKI, Adriana; TRENNEPOHL, Joanna; GARCIA, Julia Lopes; DAUDT, Liane Esteves; SEBER, Adriana; GOMES, Alessandra Araujo; FASTH, Anders; PASQUINI, Ricardo; HAMERSCHLAK, Nelson; ROCHA, Vanderson; BONFIM, Carmem
    Allogeneic hematopoietic stem cell transplantation (HCT) can cure primary immunodeficiency diseases (PID). When a HLA-matched donor is not available, a haploidentical family donor may be considered. The use of T cell-replete haploidentical HCT with post-transplantation cyclophosphamide (haplo-PTCy) in children with PID has been reported in few case series. A donor is usually readily available, and haplo-PTCy can be used in urgent cases. We studied the outcomes of 73 patients with PID who underwent haplo-PTCy, including 55 patients who did so as a first transplantation and 18 who did so as a salvage transplantation after graft failure of previous HCT. The median patient age was 1.6 years. Most of the children were male (n = 54) and had active infection at the time of transplantation (n = 50); 10 children had severe organ damage. The diagnosis was severe combined immunodeficiency (SCID) in 34 patients and non-SCID in 39 (Wiskott-Aldrich syndrome; n = 14; chronic granulomatous disease, n = 10; other PID, n = 15). The median duration of follow-up of survivors was 2 years. The cumulative incidence of neutrophil recovery was 88% in the SCID group and 84% in non-SCID group and was 81% for first transplantations and 83% after a salvage graft. At 100 days, the cumulative incidence of acute GVHD grade II-IV and III-IV was 33% and 14%, respectively. The majority of patients reached 200/mu L CD4(+) and 1000/mu L CD3(+) cell counts between 3 and 6 months. The estimated 2-year overall survival was 66%; it was 64% for SCID patients and 65% for non-SCID patients and 63% for first HCT and 77% for salvage transplantations. Twenty-five patients died, most of them due to infection early after transplantation (before 100 days). In conclusion, haplo-PTCy is a feasible procedure, can cure two-thirds of children with PID, and can be used as rescue treatment for previous graft failure. (C) 2020 American Society for Transplantation and Cellular Therapy.
  • article 6 Citação(ões) na Scopus
    Targeted-dose of busulfan: Higher risk of sinusoidal obstructive syndrome observed with systemic exposure dose above 5000 mu Mol min. A historically controlled clinical trial
    (2020) ESTEVES, Iracema; SANTOS, Fabio Pires Souza; RIBEIRO, Andreza Alice Feitosa; SEBER, Adriana; SUGAWARA, Eduardo Kinio; SOBRINHO, Jairo Jose do Nascimento; BARROS, Jose Carlos; OLIVEIRA, Jose Salvador Rodrigues; FERNANDES, Juliana Folloni; HAMERSCHLAK, Nelson; ANDERSSON, Borje S.; LIMA, Marcos de; KERBAUY, Fabio Rodrigues
    Busulfan is given in the conditioning regimens preceding hematopoietic stem cell transplantation (HSCT), and plasma levels can be monitored. A targeted, individualized systemic exposure (SE) dose can be achieved by calculating the area under the plasma concentration versus time curve (AUC). The objective of this study was to determine a cutoff value for safety for the AUC for busulfan plasma levels in patients undergoing HSCT. A total of 149 consecutive HSCT patients were studied. After an oral test dose of busulfan, we set target doses of 4000, 5000, or 6000 mu Mol min/day, and analyzed the AUC of oral or intravenous Bu. These patients were compared with 53 historical control subjects who had received myeloablative conditioning regimen without busulfan pharmacokinetic monitoring. Using a test dose and the administration route had no impact on the sinusoidal obstructive syndrome (SOS) incidence, transplant-related mortality or 1-year overall survival. However, patients receiving busulfan at doses set up at AUC > 5000 had an increased risk to develop SOS after HSCT (hazard ratio 3.39,p= 0.034, 95% CI 1.09-10.52). Adjusting the busulfan dose according to SE levels target dose during conditioning is associated with lower rates of oral severe mucositis and SOS. A cutoff of 5000 mu Mol min is safe and does not impair survival.
  • article 14 Citação(ões) na Scopus
    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, Carmem
    The 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.
  • 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 25 Citação(ões) na Scopus
    Haploidentical Donor Hematopoietic Stem Cell Transplantation with Post-Transplantation Cyclophosphamide for Relapsed/Refractory Severe Aplastic Anemia
    (2020) ARCURI, Leonardo Javier; NABHAN, Samir Kanaan; CUNHA, Renato; NICHELE, Samantha; RIBEIRO, Andreza Alice Feitosa; FERNANDES, Juliana Folloni; DAUDT, Liane Esteves; RODRIGUES, Ana Luiza Melo; ARRAIS-RODRIGUES, Celso; SEBER, Adriana; ATTA, Elias Hallack; OLIVEIRA, Jose Salvador Rodrigues de; FUNKE, Vaneuza Araujo Moreira; LOTH, Gisele; DARRIGO JUNIOR, Luiz Guilherme; PAZ, Alessandra; CALIXTO, Rodolfo Froes; GOMES, Alessandra Araujo; ARAUJO, Carlos Eduardo Sa; COLTURATO, Vergilio; SIMOES, Belinda Pinto; HAMERSCHLAK, Nelson; FLOWERS, Mary Evelyn; PASQUINI, Ricardo; ROCHA, Vanderson; BONFIM, Carmem
    Severe aplastic anemia (SAA) is a life-threatening disease that can be cured with allogeneic cell transplantation (HCT). Haploidentical donor transplantation with post-transplantation cyclophosphamide (haplo-PTCy) is an option for patients lacking an HLA-matched donor. We analyzed 87 patients who underwent haplo-PTCy between 2010 and 2019. The median patient age was 14 years (range, 1 to 69 years), most were heavily transfused, and all received previous immunosuppression (25% without antithymocyte globulin). Almost two-thirds (63%) received standard fludarabine (Flu)/cyclophosphamide (Cy) 29/total body irradiation (TBI) 200 cGy conditioning, and the remaining patients received an augmented conditioning: Flu/Cy29/TBI 300-400 (16%), Flu/Cy50/TBI 200 (10%), or Flu/Cy50/TBI 400 (10%). All patients received PTCy-based graft-versus-host disease (GVHD) prophylaxis. Most grafts (93%) were bone marrow (BM). The median duration of follow-up was 2 years and 2 months. The median time to neutrophil recovery was 17 days. Primary graft failure occurred in 15% of the patients, and secondary or poor graft function occurred in 5%. The incidences of grade II-IV acute GVHD was 14%, and that of chronic GVHD was 9%. Two-year overall survival and event-free survival (EFS) were 79% and 70%, respectively. EFS was higher for patients who received augmented Flu/Cy/TBI (hazard ratio [HR], .28; P = .02), and those who received higher BM CD34 cell doses (3.2 10E6/kg) (HR, .29; P = .004). The presence of donor-specific antibodies before HSCT was associated with lower EFS (HR, 3.92; P = .01). Graft failure (HR, 7.20; P < .0001) was associated with an elevated risk of death. Cytomegalovirus reactivation was frequent (62%). Haploidentical HCT for SAA is a feasible procedure; outcomes are improved with augmented conditioning regimens and BM grafts with higher CD34 cell doses. (C) 2020 American Society for Transplantation and Cellular Therapy.
  • 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)