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316 results on '"Bonfim, C"'

1. 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

Author

Rocha, V., Arcuri, L. J., Seber, A., Colturato, V., Zecchin, V. G., Kuwahara, C., Nichele, S., Gouveia, R., Fernandes, J. F., Macedo, A. V., Tavares, R., Daudt, L., De Souza, M. P., 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., and Bonfim, C.

Published
2021
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2. Dose-adapted post-transplant cyclophosphamide for HLA-haploidentical transplantation in Fanconi anemia

Author

Thakar, MS, Bonfim, C, Walters, MC, Storb, R, Pasquini, R, Burroughs, L, Sandmaier, BM, Woolfrey, A, and Kiem, H-P

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Immunology, Transplantation, Infectious Diseases, Regenerative Medicine, Rare Diseases, Sepsis, Hematology, Clinical Research, Organ Transplantation, Child, Child, Preschool, Cyclophosphamide, Drug Administration Schedule, Fanconi Anemia, Female, Humans, Immunosuppressive Agents, Lymphocyte Depletion, Male, T-Lymphocytes, Transplantation, Haploidentical, Clinical Sciences, Oncology and Carcinogenesis, Cardiovascular medicine and haematology, Oncology and carcinogenesis
Abstract

We developed a haploidentical transplantation protocol with post-transplant cyclophosphamide (CY) for in vivo T-cell depletion (TCD) using a novel adapted-dosing schedule (25 mg/kg on days +3 and +4) for Fanconi anemia (FA). With median follow-up of 3 years (range, 37 days to 6.2 years), all six patients engrafted. Two patients with multiple pre-transplant comorbidities died, one from sepsis and one from sepsis with associated chronic GVHD. Four patients without preexisting comorbidities and early transplant referrals are alive with 100% donor chimerism and excellent performance status. We conclude that adjusted-dosing post-transplant CY is effective in in vivo TCD to promote full donor engraftment in patients with FA.

Published
2017

4. COMPARISON OF OUTCOMES AFTER MATCHED RELATED, UNRELATED AND HAPLOIDENTICAL DONOR BONE MARROW TRANSPLANTATION FOR PATIENTS WITH ACQUIRED APLASTIC ANEMIA: A MULTICENTER RETROSPECTIVE ANALYSIS OF REAL-WORLD EXPERIENCE IN BRAZIL

Author

Marchesini, R, primary, Colturato, I, additional, Muratori, RR, additional, Funke, VAM, additional, Nabhan, SK, additional, Loth, G, additional, Barbieri, FR, additional, Delattre, ERP, additional, Lima, ACM, additional, and Bonfim, C, additional

Published
2023
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5. GUIA PRÁTICO DE PSIQUIATRIA: uma abordagem sindrômica

Author

MELO, M. C. A., primary, NOBRE, H. G. M., additional, BONFIM, C. M. N., additional, REBOUÇAS, E. F., additional, MATOS, G. D. N., additional, GOMES, I. E. V. M., additional, PINTO, J. P., additional, LUZ, J. H. S., additional, FORTALEZA, L. Y. M. C., additional, MACEDO, M. T. G. C., additional, OLIVEIRA, N. H., additional, SILVA, P. S. V. G., additional, NEPOMUCENO, Raul de Castro Alves, additional, and TEIXEIRA, T. P. G., additional

Published
2020
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8. PRINCIPAL ACTIONS OF THE MYELODYSPLASTIC SYNDROME HSCT AMERICAN LATIN REGISTRY

Author

Duarte, F.B., primary, Santos, T.E., additional, Funke, V., additional, Colturato, V.A.R., additional, Hamerschlak, N., additional, Villela, N., additional, Macedo, M.C.M.A., additional, Vigorito, A.C., additional, Soares, R.D.A., additional, Paz, A., additional, Diaz, L., additional, Stevenazzi, M., additional, Neto, A.E. Hallack, additional, Bettarello, G., additional, Gusmão, B.M., additional, Salvino, M.A., additional, Calixto, R.F., additional, Moreira, M.C.R., additional, Teixeira, G.M., additional, Silva, C.C., additional, Paton, E.J.A., additional, Rocha, V., additional, Enrico, A., additional, Bonfim, C., additional, Chiattone, R., additional, Simioni, A.J., additional, Arrais, C., additional, and Coelho, E.O.D.M., additional

Published
2023
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12. O17 - PRINCIPAL ACTIONS OF THE MYELODYSPLASTIC SYNDROME HSCT AMERICAN LATIN REGISTRY

Author

Duarte, F.B., Santos, T.E., Funke, V., Colturato, V.A.R., Hamerschlak, N., Villela, N., Macedo, M.C.M.A., Vigorito, A.C., Soares, R.D.A., Paz, A., Diaz, L., Stevenazzi, M., Neto, A.E. Hallack, Bettarello, G., Gusmão, B.M., Salvino, M.A., Calixto, R.F., Moreira, M.C.R., Teixeira, G.M., Silva, C.C., Paton, E.J.A., Rocha, V., Enrico, A., Bonfim, C., Chiattone, R., Simioni, A.J., Arrais, C., and Coelho, E.O.D.M.

Published
2023
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13. Latin America: the next region for haematopoietic transplant progress

Author

Jaimovich, G, Martinez Rolon, J, Baldomero, H, Rivas, M, Hanesman, I, Bouzas, L, Bonfim, C, Palma, J, Kardus-Urueta, A, Ubidia, D, Bujan-Boza, W, Gonzalez-Ramella, O, Ruiz-Argüelles, G, Gomez-Almaguer, D, Espino, G, Fanilla, E, Gonzalez, D, Carrasco, A, Galeano, S, Borelli, G, Hernandez-Gimenez, M, Pasquini, M, Kodera, Y, Gratwohl, A, Gratwohl, M, Nuñez, J, Szer, J, Gale, R P, Niederwieser, D, and Seber, A

Published
2017
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19. Hematopoietic stem cell transplant activity in Latin America: Predominant increase in autologous and modest increase in allogeneic HCT with high use of unrelated cord blood grafts: 402

Author

Rolon, J M, Baldomero, H, Jaimovich, G, Rivas, M, Bouzas, L F, Sales-Bonfim, C M, Palma, J, Karduss-Urueta, A, Ubidia, D, Bojan-Bouza, W, Gonzalez-Ramella, O, Ruiz-Argüelles, G J, Gomez-Almaguer, D, Espino, G A, Fanilla, E, Gonzalez, D, Carrasco, A, Galeano, S, Borelli, W G, Hernandez-Gimenez, M, Pasquini, M C, Kodera, Y, Niederwieser, D, and Seber, A

Published
2016

20. HCT outcome in adult patients with Fanconi anemia: WP41

Author

Bierings, M., Bonfim, C., Aljurf, M., Mehta, P., de la Tour, Peffault R., Knol, C., Sucak, G., Othman, T. B., Socie, G., Thomson, K., McQuaker, G., Esquirol, A., Zecca, M., Boulad, F., Kroger, N., Michallet, M., Risitano, A., Ehninger, G., Porcher, R., and Dufour, C.

Published
2016

21. P55 - Topic: AS08-Treatment/AS08h-Allogeneic hematopoietic cell transplantation -Bridging to transplantation: OUTCOMES OF HAPLOIDENTICAL HEMATOPOIETIC STEM CELL TRANSPLANTATION OF PATIENTS FROM THE MDS LATIN AMERICAN REGISTRY

Author

Duarte, F., Sousa, T.E., Funke, V., Colturato, V., Hamerschlak, N., Vilela, N., Macedo, M.C., Vigorito, A., Soares, R., Paz, A., Stevenazzi, M., Neto, A., Bettarello, G., Gusmão, B., Salvino, M.A., Calixto, R., Moreira, M.C., Teixeira, G., Silva, C., Lemes, R., Garcia, Y. Oliveira, Paton, E.J., Rocha, V., Enrico, A., Bonfim, C., Chiattone, R., Simioni, A.J., Arrais, C., Coelho, E., and Diaz, L.

Published
2021
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22. Topic: AS08-Treatment/AS08h-Allogeneic hematopoietic cell transplantation -Bridging to transplantation

Author

Duarte, F., primary, Sousa, T.E., additional, Funke, V., additional, Colturato, V., additional, Hamerschlak, N., additional, Vilela, N., additional, Macedo, M.C., additional, Vigorito, A., additional, Soares, R., additional, Paz, A., additional, Stevenazzi, M., additional, Neto, A., additional, Bettarello, G., additional, Gusmão, B., additional, Salvino, M.A., additional, Calixto, R., additional, Moreira, M.C., additional, Teixeira, G., additional, Silva, C., additional, Lemes, R., additional, Garcia, Y. Oliveira, additional, Paton, E.J., additional, Rocha, V., additional, Enrico, A., additional, Bonfim, C., additional, Chiattone, R., additional, Simioni, A.J., additional, Arrais, C., additional, Coelho, E., additional, and Diaz, L., additional

Published
2021
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29. Erratum: Latin America: the next region for haematopoietic transplant progress

Author

Jaimovich, G, Rolon, J Martinez, Baldomero, H, Rivas, M, Hanesman, I, Bouzas, L, Bonfim, C, Palma, J, Kardus-Urueta, A, Ubidia, D, Bujan-Boza, W, Gonzalez-Ramella, O, Ruiz-Argüelles, G, Gomez-Almaguer, D, Espino, G, Fanilla, E, Gonzalez, D, Carrasco, A, Galeano, S, Borelli, G, Hernandez-Gimenez, M, Pasquini, M, Kodera, Y, Gratwohl, A, Gratwohl, M, Nuñez, J, Szer, J, Gale, R P, Niederwieser, D, and Seber, A

Published
2017
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34. FLAG-sequential regimen followed by bone marrow transplantation for myelodysplastic syndrome or acute leukemia in patients with Fanconi anemia: a Franco-Brazilian study

Author

Debureaux, P. E., primary, Sicre de Fontbrune, F., additional, Bonfim, C., additional, Dalle, J. H., additional, Buchbinder, N., additional, Bertrand, Y., additional, Renard, C., additional, Forcade, E., additional, Fernandes, J., additional, Talbot, A., additional, Pasquini, R., additional, Soulier, J., additional, Leblanc, T., additional, Socie, G., additional, and Peffault de Latour, R., additional

Published
2020
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36. Transplant results in adults with Fanconi anaemia

Author

Bierings M., Bonfim C., Peffault De Latour R., Aljurf M., Mehta P. A., Knol C., Boulad F., Tbakhi A., Esquirol A., McQuaker G., Sucak G. A., Othman T. B., Halkes C. J. M., Carpenter B., Niederwieser D., Zecca M., Kroger N., Michallet M., Risitano A. M., Ehninger G., Porcher R., Dufour C., Bonfirm C., Socie G., Gurman G., Ghavamzadeh A., Hamladji R. -M., van Lint M. T., Stepensky P., Koh M., Ozkurt Z. N., Veelken J. H., Bunjes D., Beelen D., Campos A., Robinson S., Alessandrino E. P., Unal A., Fernandez Navarro J. M., Mufti G. J., Velardi A., Passweg J., Apperley J., Sengeloev H., Ljungman P., Foa R., Alegre A., Espiga C. R., Cornelissen J. J., Di Bartolomeo P., Cordonnier C., Browne P., Jubert C., Gastl G., Pierelli L., Johansson J. -E., Fagioli F., Moraleda J., Zuckerman T., Bazarbachi A., Sedlacek P., Rossig C., Wynn R. F., Hallek M., Toren A., Zudaire T., Clausen J., Spencer A., Grazon Lopez S., Schots R., Komarnicki M., Gonzalez Muniz S., Vitek A., Rambaldi A., Merli F., Rubio M. T., Cabrera Marin J. R., Porto F., Kerre T., Metzner B., Stein J., Bertrand Y., Ciceri F., Chybicka A., Diez-Martin J. L., Bayoumy M., de la Fuente J., Fegueux N., Bierings, M., Bonfim, C., Peffault De Latour, R., Aljurf, M., Mehta, P. A., Knol, C., Boulad, F., Tbakhi, A., Esquirol, A., Mcquaker, G., Sucak, G. A., Othman, T. B., Halkes, C. J. M., Carpenter, B., Niederwieser, D., Zecca, M., Kroger, N., Michallet, M., Risitano, A. M., Ehninger, G., Porcher, R., Dufour, C., Bonfirm, C., Socie, G., Gurman, G., Ghavamzadeh, A., Hamladji, R. -M., van Lint, M. T., Stepensky, P., Koh, M., Ozkurt, Z. N., Veelken, J. H., Bunjes, D., Beelen, D., Campos, A., Robinson, S., Alessandrino, E. P., Unal, A., Fernandez Navarro, J. M., Mufti, G. J., Velardi, A., Passweg, J., Apperley, J., Sengeloev, H., Ljungman, P., Foa, R., Alegre, A., Espiga, C. R., Cornelissen, J. J., Di Bartolomeo, P., Cordonnier, C., Browne, P., Jubert, C., Gastl, G., Pierelli, L., Johansson, J. -E., Fagioli, F., Moraleda, J., Zuckerman, T., Bazarbachi, A., Sedlacek, P., Rossig, C., Wynn, R. F., Hallek, M., Toren, A., Zudaire, T., Clausen, J., Spencer, A., Grazon Lopez, S., Schots, R., Komarnicki, M., Gonzalez Muniz, S., Vitek, A., Rambaldi, A., Merli, F., Rubio, M. T., Cabrera Marin, J. R., Porto, F., Kerre, T., Metzner, B., Stein, J., Bertrand, Y., Ciceri, F., Chybicka, A., Diez-Martin, J. L., Bayoumy, M., de la Fuente, J., Fegueux, N., Clinical sciences, Hematology, Bierings, Marc, Bonfim, Carmem, Peffault De Latour, Regi, Aljurf, Mahmoud, Mehta, Parinda A., Knol, Cora, Boulad, Farid, Tbakhi, Abdelghani, Esquirol, Albert, Mcquaker, Grant, Sucak, Gulsan A., Othman, Tarek B., Halkes, Constantijn J. M., Carpenter, Ben, Niederwieser, Dietger, Zecca, Marco, Kröger, Nicolau, Michallet, Mauricette, Risitano, Antonio M., Ehninger, Gerhard, Porcher, Raphael, Dufour, Carlo, Bonfirm, Carmem, Socié, Gerard, Gurman, Gunham, Ghavamzadeh, Ardesir, Hamladji, Rise-Marie, Stepensky, Polina, Koh, Mickey, Ozkurt, Zubeyde Nur, Veelken, Joan Hendrik, Bunjes, Donald, Beelen, Dietrich, Campos, Antonio, Robinson, Stephen, Alessandrino, E. Paolo, Unal, Ali, Fernandez Navarro, José Maria, Velardi, Andrea, Passweg, Jakob, Apperley, Jane, Sengeloev, Henrik, Ljungman, Per, Foá, Roberto, Alegre, Adrián, Espiga, Carlos Richard, Di Bartolomeo, Paolo, Cordonnier, Catherine, Browne, Paul, Jubert, Charlotte, Gastl, Günther, Pierelli, Luca, Johansson, Jan-Erik, Fagioli, Franca, Moraleda, José, Zuckerman, Tsila, Bazarbachi, Ali, Sedlacek, Petr, Rössig, Claudia, Hallek, Michael, Toren, Amo, Zudaire, Teresa, Clausen, Joahanne, Spencer, Andrew, Grazon Lopez, Sebastian, Schots, Rik, González Muniz, Soledad, Vitek, Antonin, Rambaldi, Alessandro, Merli, Francesco, Rubio, Marie Thérese, Rossig, Claudia, Cabrera Marín, José Rafael, Porto, Fulvio, Kerre, Tessa, Metzner, Bernd, Stein, Jerry, Bertrand, Yve, Ciceri, Fabio, Chybicka, Alicja, Bayoumy, Mohamed, de la Fuente, Josu, and Fegueux, Nathalie

Subjects
Transplantation Conditioning, Graft vs Host Disease, Disease, Gastroenterology, 0302 clinical medicine, Retrospective Studie, Risk Factors, Inborn bone marrow failure syndrome, Neoplasms, Cause of Death, risk factors, inborn bone marrow failure syndrome, Transplantation, Homologou, Medicine(all), allogeneic transplant, Fanconi anaemia, myelodysplasia, Adolescent, Adult, Fanconi Anemia, Humans, Middle Aged, Neoplasms, Second Primary, Prognosis, Retrospective Studies, Survival Analysis, Tissue Donors, Transplantation, Homologous, Treatment Outcome, Young Adult, Hematopoietic Stem Cell Transplantation, Hematology, Incidence (epidemiology), Fludarabine, Second Primary, medicine.anatomical_structure, surgical procedures, operative, 030220 oncology & carcinogenesis, young adult, Survival Analysi, Human, medicine.drug, Homologous, medicine.medical_specialty, Cyclophosphamide, Prognosi, Myelodysplasia, Tissue Donor, Graft vs Host Disease/etiology, 03 medical and health sciences, Internal medicine, medicine, Hematopoietic Stem Cell Transplantation/adverse effects, Sibling, Transplantation, business.industry, Risk Factor, Neoplasms, Second Primary/etiology, Confidence interval, Allogeneic transplant, Surgery, Bone marrow, business, Fanconi Anemia/diagnosis, 030215 immunology
Abstract

The outcomes of adult patients transplanted for Fanconi anaemia (FA) have not been well described. We retrospectively analysed 199 adult patients with FA transplanted between 1991 and 2014. Patients were a median of 16years of age when diagnosed with FA, and underwent transplantation at a median age of 23years. Time between diagnosis and transplant was shortest (median 2years) in those patients who had a human leucocyte antigen identical sibling donor. Fifty four percent of patients had bone marrow (BM) failure at transplantation and 46% had clonal disease (34% myelodysplasia, 12% acute leukaemia). BM was the main stem cell source, the conditioning regimen included cyclophosphamide in 96% of cases and fludarabine in 64%. Engraftment occurred in 82% (95% confidence interval [CI] 76–87%), acute graft-versus-host disease (GvHD) grade II–IV in 22% (95% CI 16–28%) and the incidence of chronic GvHD at 96months was 26% (95% CI 20–33). Non-relapse mortality at 96months was 56% with an overall survival of 34%, which improved with more recent transplants. Median follow-up was 58months. Patients transplanted after 2000 had improved survival (84% at 36months), using BM from an identical sibling and fludarabine in the conditioning regimen. Factors associated with improved outcome in multivariate analysis were use of fludarabine and an identical sibling or matched non-sibling donor. Main causes of death were infection (37%), GvHD (24%) and organ failure (12%). The presence of clonal disease at transplant did not significant impact on survival. Secondary malignancies were reported in 15 of 131 evaluable patients.

Published
2018

40. Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency

Author

Aydin, S.E., Freeman, A.F., Al-Herz, W., Al-Mousa, H.A., Arnaout, R.K., Aydin, R.C., Barlogis, V., Belohradsky, B.H., Bonfim, C., Bredius, R.G., Chu, J.I., Ciocarlie, O.C., Dogu, F., Gaspar, H.B., Geha, R.S., Gennery, A.R., Hauck, F., Hawwari, A., Hickstein, D.D., Hoenig, M., Ikinciogullari, A., Klein, C., Kumar, A., Ifversen, M.R.S., Matthes, S., Metin, A., Neven, B., Pai, S.Y., Parikh, S.H., Picard, C., Renner, E.D., Sanal, O., Schulz, A.S., Schuster, F., Shah, N.N., Shereck, E.B., Slatter, M.A., Su, H.C., Montfrans, J. van, Woessmann, W., Ziegler, J.B., Albert, M.H., Inborn Errors Working Party Europe, and European Soc Primary Immunodefici

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, DOCK8 deficiency, medicine.medical_treatment, Graft vs Host Disease, Hematopoietic stem cell transplantation, Kaplan-Meier Estimate, Treosulfan, Article, Young Adult, Internal medicine, medicine, Journal Article, Immunology and Allergy, Guanine Nucleotide Exchange Factors, Humans, Child, Immunodeficiency, business.industry, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, Infant, Retrospective cohort study, medicine.disease, Combined immunodeficiency, Regimen, Graft-versus-host disease, surgical procedures, operative, Child, Preschool, Failure to thrive, HSCT, Female, medicine.symptom, business, Busulfan, medicine.drug
Abstract

BACKGROUND: Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency with eczema, recurrent bacterial and viral infections, and malignancy. Natural disease outcome is dismal, but allogeneic hematopoietic stem cell transplantation (HSCT) can cure the disease.OBJECTIVE: To determine outcome of HSCT for DOCK8 deficiency and define possible outcome variables.METHODS: We performed a retrospective study of the results of HSCT in a large international cohort of DOCK8-deficient patients.RESULTS: We identified 81 patients from 22 centers transplanted at a median age of 9.7 years (range, 0.7-27.2 years) between 1995 and 2015. After median follow-up of 26 months (range, 3-135 months), 68 (84%) patients are alive. Severe acute (III-IV) or chronic graft versus host disease occurred in 11% and 10%, respectively. Causes of death were infections (n = 5), graft versus host disease (5), multiorgan failure (2), and preexistent lymphoma (1). Survival after matched related (n = 40) or unrelated (35) HSCT was 89% and 81%, respectively. Reduced-toxicity conditioning based on either treosulfan or reduced-dose busulfan resulted in superior survival compared with fully myeloablative busulfan-based regimens (97% vs 78%; P = .049). Ninety-six percent of patients younger than 8 years at HSCT survived, compared with 78% of those 8 years and older (P = .06). Of the 73 patients with chimerism data available, 65 (89%) had more than 90% donor T-cell chimerism at last follow-up. Not all disease manifestations responded equally well to HSCT: eczema, infections, and mollusca resolved quicker than food allergies or failure to thrive.CONCLUSIONS: HSCT is curative in most DOCK8-deficient patients, confirming this approach as the treatment of choice. HSCT using a reduced-toxicity regimen may offer the best chance for survival. (C) 2018 Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology

Published
2019

41. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Author

Farmer, J.R. Foldvari, Z. Ujhazi, B. De Ravin, S.S. Chen, K. Bleesing, J.J.H. Schuetz, C. Al-Herz, W. Abraham, R.S. Joshi, A.Y. Costa-Carvalho, B.T. Buchbinder, D. Booth, C. Reiff, A. Ferguson, P.J. Aghamohammadi, A. Abolhassani, H. Puck, J.M. Adeli, M. Cancrini, C. Palma, P. Bertaina, A. Locatelli, F. Di Matteo, G. Geha, R.S. Kanariou, M.G. Lycopoulou, L. Tzanoudaki, M. Sleasman, J.W. Parikh, S. Pinero, G. Fischer, B.M. Dbaibo, G. Unal, E. Patiroglu, T. Karakukcu, M. Al-Saad, K.K. Dilley, M.A. Pai, S.-Y. Dutmer, C.M. Gelfand, E.W. Geier, C.B. Eibl, M.M. Wolf, H.M. Henderson, L.A. Hazen, M.M. Bonfim, C. Wolska-Kuśnierz, B. Butte, M.J. Hernandez, J.D. Nicholas, S.K. Stepensky, P. Chandrakasan, S. Miano, M. Westermann-Clark, E. Goda, V. Kriván, G. Holland, S.M. Fadugba, O. Henrickson, S.E. Ozen, A. Karakoc-Aydiner, E. Baris, S. Kiykim, A. Bredius, R. Hoeger, B. Boztug, K. Pashchenko, O. Neven, B. Moshous, D. de Villartay, J.-P. Bousfiha, A.A. Hill, H.R. Notarangelo, L.D. Walter, J.E.

Subjects
hemic and lymphatic diseases
Abstract

Background: Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. Objective: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. Methods: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. Results: Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. Conclusions: Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management. © 2019 The Authors

Published
2019

45. Microrganismos benéficos em biofertilizantes

Author

BONFIM, C. A., FONTENELLE, M. R., CAHARINE ABREU BONFIM, BIOLOGIA MICROBIANA. UNIVERSIDADE DE BRASÍLIA, and MARIANA RODRIGUES FONTENELLE, CNPH.

Subjects
Hortaliça, Biofertilizante, Hortibio
Abstract

"É possível afirmar que o uso de biofertilizantes pode auxiliar no crescimento de diversas culturas agrícolas, além de mitigar muitos dos impactos ambientais negativos dos sistemas agrícolas convencionais."

Published
2017

49. HCT outcome in adult patients with Fanconi anemia

Author

Ehninger, G., Dufour, C., Risitano, A., Michallet, M., Kroger, N., Boulad, F., Bierings, M., Bonfim, C., Knol, C., Zecca, M., Esquirol, A., Sucak, G., Othman, T. B., Socie, G., Porcher, R., Aljurf, M., Mehta, P., de la Tour, R. Peffault, McQuaker, G., and Thomson, K.

Published
2016

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