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Meta-analysis of hematopoietic stem cell transplantation in major histocompatibility complex class II deficiency / Andrés Felipe Escobar González
Título : Meta-analysis of hematopoietic stem cell transplantation in major histocompatibility complex class II deficiency Tipo de documento : documento electrónico Autores : Andrés Felipe Escobar González, Fecha de publicación : 2020 Títulos uniformes : Pediatric Transplantation Idioma : Inglés (eng) Palabras clave : hematopoietic stem cell transplant major histocompatibility complex class II deficiency primary immunodeficiency Resumen : Major histocompatibility complex class II deficiency is a rare case of PID. Specific recommendations for hematopoietic stem cell transplant, the only curative treatment option, are still lacking. This meta‐analysis aims to identify the factors associated with better prognosis in these patients. Thirteen articles reporting 63 patients with major histocompatibility complex class II deficiency that underwent hematopoietic stem cell transplant were included. The median age for hematopoietic stem cell transplant was 18 months. The most common source of transplant was bone marrow, with alternative sources as umbilical cord blood emerging during recent years. The highest proportion of engraftment was seen with umbilical cord. Engraftment was higher in patients with matched donors, with better overall survival in patients with reduced‐intensity conditioning. Graft‐vs‐host disease developed in 65% of the patients, with grades I‐II being the most frequently encountered. There was a higher mortality in patients with myeloablative conditioning and no engraftment. There was an inverse correlation between survival and stage of graft‐vs‐host disease. The main cause of mortality was infectious disease, mostly secondary to viral infections. Ideally, matched grafts should be used, and reduced‐intensity conditioning should be considered to reduce early post‐transplant complications. GVHD and viral prophylaxis are fundamental. Mención de responsabilidad : Lina Maria Castano‐Jaramillo, Jose Bareño‐Silva, Santiago Tobon, Andres Felipe Escobar‐Gonzalez Referencia : Pediatr Transplant. 2020 Sep;24(6):e13774. DOI (Digital Object Identifier) : 10.1111/petr.13774 PMID : 32678504 En línea : https://onlinelibrary.wiley.com/doi/abs/10.1111/petr.13774 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=5138 Meta-analysis of hematopoietic stem cell transplantation in major histocompatibility complex class II deficiency [documento electrónico] / Andrés Felipe Escobar González, . - 2020.
Obra : Pediatric Transplantation
Idioma : Inglés (eng)
Palabras clave : hematopoietic stem cell transplant major histocompatibility complex class II deficiency primary immunodeficiency Resumen : Major histocompatibility complex class II deficiency is a rare case of PID. Specific recommendations for hematopoietic stem cell transplant, the only curative treatment option, are still lacking. This meta‐analysis aims to identify the factors associated with better prognosis in these patients. Thirteen articles reporting 63 patients with major histocompatibility complex class II deficiency that underwent hematopoietic stem cell transplant were included. The median age for hematopoietic stem cell transplant was 18 months. The most common source of transplant was bone marrow, with alternative sources as umbilical cord blood emerging during recent years. The highest proportion of engraftment was seen with umbilical cord. Engraftment was higher in patients with matched donors, with better overall survival in patients with reduced‐intensity conditioning. Graft‐vs‐host disease developed in 65% of the patients, with grades I‐II being the most frequently encountered. There was a higher mortality in patients with myeloablative conditioning and no engraftment. There was an inverse correlation between survival and stage of graft‐vs‐host disease. The main cause of mortality was infectious disease, mostly secondary to viral infections. Ideally, matched grafts should be used, and reduced‐intensity conditioning should be considered to reduce early post‐transplant complications. GVHD and viral prophylaxis are fundamental. Mención de responsabilidad : Lina Maria Castano‐Jaramillo, Jose Bareño‐Silva, Santiago Tobon, Andres Felipe Escobar‐Gonzalez Referencia : Pediatr Transplant. 2020 Sep;24(6):e13774. DOI (Digital Object Identifier) : 10.1111/petr.13774 PMID : 32678504 En línea : https://onlinelibrary.wiley.com/doi/abs/10.1111/petr.13774 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=5138 Reserva
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Código de barras Número de Ubicación Tipo de medio Ubicación Sección Estado DD001398 AC-2020-075 Archivo digital Producción Científica Artículos científicos Disponible Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient / Andrea Victoria Restrepo Gouzy ; Mónica Rosa Trujillo Honeysberg ; Lina Vanessa Gómez Gómez ; Verónica Molina Vélez ; Delsy Yurledy del Río Cobaleda ; Ana Cristina Ruiz Suárez ; Carlos Guillermo Garcés Samudio
Título : Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient Tipo de documento : documento electrónico Autores : Andrea Victoria Restrepo Gouzy, ; Mónica Rosa Trujillo Honeysberg, ; Lina Vanessa Gómez Gómez, ; Verónica Molina Vélez, ; Delsy Yurledy del Río Cobaleda, ; Ana Cristina Ruiz Suárez, ; Carlos Guillermo Garcés Samudio, Fecha de publicación : 2018 Títulos uniformes : Journal of Clinical Immunology Idioma : Inglés antiguo (ca.1100-1500) (enm) Palabras clave : Phaeohyphomycosis corynespora cassiicola compound heterozygous mutations CARD9 invasive fungal disease primary immunodeficiency inborn errors of immunity Resumen : Purpose: CARD9 deficiency is an inborn error of immunity that predisposes otherwise healthy humans to mucocutaneous and invasive fungal infections, mostly caused by Candida, but also by dermatophytes, Aspergillus, and other fungi. Phaeohyphomycosis are an emerging group of fungal infections caused by dematiaceous fungi (phaeohyphomycetes) and are being increasingly identified in patients with CARD9 deficiency. The Corynespora genus belongs to phaeohyphomycetes and only one adult patient with CARD9 deficiency has been reported to suffer from invasive disease caused by C. cassiicola. We identified a Colombian child with an early-onset, deep, and destructive mucocutaneous infection due to C. cassiicola and we searched for mutations in CARD9.¿Methods: We reviewed the medical records and immunological findings in the patient. Microbiologic tests and biopsies were performed. Whole-exome sequencing (WES) was made and Sanger sequencing was used to confirm the CARD9 mutations in the patient and her family. Finally, CARD9 protein expression was evaluated in peripheral blood mononuclear cells (PBMC) by western blotting. Results: The patient was affected by a large, indurated, foul-smelling, and verrucous ulcerated lesion on the left side of the face with extensive necrosis and crusting, due to a C. cassiicola infectious disease. WES led to the identification of compound heterozygous mutations in the patient consisting of the previously reported p.Q289* nonsense (c.865C > T, exon 6) mutation, and a novel deletion (c.23_29del; p.Asp8Alafs10*) leading to a frameshift and a premature stop codon in exon 2. CARD9 protein expression was absent in peripheral blood mononuclear cells from the patient. Conclusion: We describe here compound heterozygous loss-of-expression mutations in CARD9 leading to severe deep and destructive mucocutaneous phaeohyphomycosis due to C. cassiicola in a Colombian child. Mención de responsabilidad : Carlos A Arango-Franco, Marcela Moncada-Vélez, Claudia Patricia Beltrán, Indira Berrío, Cristian Mogollón, Andrea Restrepo, Mónica Trujillo, Sara Daniela Osorio, Lorena Castro, Lina Vanessa Gómez, Ana María Muñoz, Verónica Molina, Delsy Yurledy Del Río Cobaleda, Ana Cristina Ruiz, Carlos Garcés, Juan Fernando Alzate, Felipe Cabarcas, Julio Cesar Orrego, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco Referencia : J Clin Immunol. 2018 Oct;38(7):794-803. DOI (Digital Object Identifier) : 10.1007/s10875-018-0549-0 PMID : 30264381 En línea : https://link.springer.com/article/10.1007%2Fs10875-018-0549-0 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4173 Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient [documento electrónico] / Andrea Victoria Restrepo Gouzy, ; Mónica Rosa Trujillo Honeysberg, ; Lina Vanessa Gómez Gómez, ; Verónica Molina Vélez, ; Delsy Yurledy del Río Cobaleda, ; Ana Cristina Ruiz Suárez, ; Carlos Guillermo Garcés Samudio, . - 2018.
Obra : Journal of Clinical Immunology
Idioma : Inglés antiguo (ca.1100-1500) (enm)
Palabras clave : Phaeohyphomycosis corynespora cassiicola compound heterozygous mutations CARD9 invasive fungal disease primary immunodeficiency inborn errors of immunity Resumen : Purpose: CARD9 deficiency is an inborn error of immunity that predisposes otherwise healthy humans to mucocutaneous and invasive fungal infections, mostly caused by Candida, but also by dermatophytes, Aspergillus, and other fungi. Phaeohyphomycosis are an emerging group of fungal infections caused by dematiaceous fungi (phaeohyphomycetes) and are being increasingly identified in patients with CARD9 deficiency. The Corynespora genus belongs to phaeohyphomycetes and only one adult patient with CARD9 deficiency has been reported to suffer from invasive disease caused by C. cassiicola. We identified a Colombian child with an early-onset, deep, and destructive mucocutaneous infection due to C. cassiicola and we searched for mutations in CARD9.¿Methods: We reviewed the medical records and immunological findings in the patient. Microbiologic tests and biopsies were performed. Whole-exome sequencing (WES) was made and Sanger sequencing was used to confirm the CARD9 mutations in the patient and her family. Finally, CARD9 protein expression was evaluated in peripheral blood mononuclear cells (PBMC) by western blotting. Results: The patient was affected by a large, indurated, foul-smelling, and verrucous ulcerated lesion on the left side of the face with extensive necrosis and crusting, due to a C. cassiicola infectious disease. WES led to the identification of compound heterozygous mutations in the patient consisting of the previously reported p.Q289* nonsense (c.865C > T, exon 6) mutation, and a novel deletion (c.23_29del; p.Asp8Alafs10*) leading to a frameshift and a premature stop codon in exon 2. CARD9 protein expression was absent in peripheral blood mononuclear cells from the patient. Conclusion: We describe here compound heterozygous loss-of-expression mutations in CARD9 leading to severe deep and destructive mucocutaneous phaeohyphomycosis due to C. cassiicola in a Colombian child. Mención de responsabilidad : Carlos A Arango-Franco, Marcela Moncada-Vélez, Claudia Patricia Beltrán, Indira Berrío, Cristian Mogollón, Andrea Restrepo, Mónica Trujillo, Sara Daniela Osorio, Lorena Castro, Lina Vanessa Gómez, Ana María Muñoz, Verónica Molina, Delsy Yurledy Del Río Cobaleda, Ana Cristina Ruiz, Carlos Garcés, Juan Fernando Alzate, Felipe Cabarcas, Julio Cesar Orrego, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco Referencia : J Clin Immunol. 2018 Oct;38(7):794-803. DOI (Digital Object Identifier) : 10.1007/s10875-018-0549-0 PMID : 30264381 En línea : https://link.springer.com/article/10.1007%2Fs10875-018-0549-0 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4173 Reserva
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Código de barras Número de Ubicación Tipo de medio Ubicación Sección Estado DD000787 AC-2018-074 Archivo digital Producción Científica Artículos científicos Disponible