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Journal of Clinical Immunology
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Documentos disponibles con este título uniforme (5)
Clasificado(s) por (Año de edición descendente) Refinar búsquedaHaploidentical stem cell transplant with post-transplant cyclophosphamide in pediatric hemophagocytic lymphohistiocytosis / Luz Natalia Builes Restrepo ; Andrés Felipe Escobar González
Título : Haploidentical stem cell transplant with post-transplant cyclophosphamide in pediatric hemophagocytic lymphohistiocytosis Tipo de documento : documento electrónico Autores : Luz Natalia Builes Restrepo, ; Andrés Felipe Escobar González, Fecha de publicación : 2021 Títulos uniformes : Journal of Clinical Immunology Idioma : Inglés (eng) Palabras clave : Hemophagocytic lymphohistiocytosis hematopoietic stem cell transplantation child cyclophosphamide haploidentical Resumen : Purpose: Primary hemophagocytic lymphohistiocytosis is a severe and uncommon disease affecting pediatric patients. Genetic abnormalities have been related to altered apoptosis and exaggerated inflammatory reactions. Chemoimmunotherapy and stem cell transplantation are treatment options, but transplant is the only curative treatment. Here we aim to describe the treatment with hematopoietic stem cell transplantation with a novel strategy and the outcomes. Methods: An observational, descriptive, case series study was performed in pediatric patients of two high complexity medical centers in Colombia. Data was collected retrospectively between 2015 and 2020. Results: We describe five pediatric cases with a diagnosis of primary hemophagocytic lymphohistiocytosis. All were treated with replete-cell haploidentical hematopoietic stem transplantation, reduced-intensity conditioning, and post-transplant cyclophosphamide, in two high-complexity centers in Colombia. All patients are alive, and one is receiving management for chronic graft-versus-host disease. Conclusion: To the best of our knowledge, there are few reports in the literature with this strategy, promising a possible alternative when there are no other donor options. Mención de responsabilidad : Diego Medina-Valencia, Daniela Cleves, Estefania Beltran, Natalia Builes, Alexis A. Franco, Andrés Felipe Escobar-González & Manuela Olaya Referencia : J Clin Immunol. 2021 Aug;41(6):1172-1177. DOI (Digital Object Identifier) : 10.1007/s10875-021-01009-3 PMID : 33687579 En línea : https://link.springer.com/article/10.1007%2Fs10875-021-01009-3 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=5762 Haploidentical stem cell transplant with post-transplant cyclophosphamide in pediatric hemophagocytic lymphohistiocytosis [documento electrónico] / Luz Natalia Builes Restrepo, ; Andrés Felipe Escobar González, . - 2021.
Obra : Journal of Clinical Immunology
Idioma : Inglés (eng)
Palabras clave : Hemophagocytic lymphohistiocytosis hematopoietic stem cell transplantation child cyclophosphamide haploidentical Resumen : Purpose: Primary hemophagocytic lymphohistiocytosis is a severe and uncommon disease affecting pediatric patients. Genetic abnormalities have been related to altered apoptosis and exaggerated inflammatory reactions. Chemoimmunotherapy and stem cell transplantation are treatment options, but transplant is the only curative treatment. Here we aim to describe the treatment with hematopoietic stem cell transplantation with a novel strategy and the outcomes. Methods: An observational, descriptive, case series study was performed in pediatric patients of two high complexity medical centers in Colombia. Data was collected retrospectively between 2015 and 2020. Results: We describe five pediatric cases with a diagnosis of primary hemophagocytic lymphohistiocytosis. All were treated with replete-cell haploidentical hematopoietic stem transplantation, reduced-intensity conditioning, and post-transplant cyclophosphamide, in two high-complexity centers in Colombia. All patients are alive, and one is receiving management for chronic graft-versus-host disease. Conclusion: To the best of our knowledge, there are few reports in the literature with this strategy, promising a possible alternative when there are no other donor options. Mención de responsabilidad : Diego Medina-Valencia, Daniela Cleves, Estefania Beltran, Natalia Builes, Alexis A. Franco, Andrés Felipe Escobar-González & Manuela Olaya Referencia : J Clin Immunol. 2021 Aug;41(6):1172-1177. DOI (Digital Object Identifier) : 10.1007/s10875-021-01009-3 PMID : 33687579 En línea : https://link.springer.com/article/10.1007%2Fs10875-021-01009-3 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=5762 Reserva
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Título : Hematopoietic stem cell transplantation in children with inborn errors of immunity: a multi-center experience in Colombia Tipo de documento : documento electrónico Autores : Luz Natalia Builes Restrepo, Fecha de publicación : 2020 Títulos uniformes : Journal of Clinical Immunology Idioma : Inglés (eng) Palabras clave : Hematopoietic stem cell transplantation child haploidentical transplantations pediatrics primary immunodeficiency diseases transplant recipients Resumen : Purpose: To characterize the pediatric population with inborn errors of immunity (IEI) that was treated with hematopoietic stem cell transplantation (HSCT) in three reference centers in Colombia. What have been the characteristics and outcomes of hematopoietic stem cell transplantation in pediatric patients with inborn errors of immunity in three reference care centers in Colombia between 2007 and 2018. Methods: We conducted an observational, retrospective cohort study in children with a diagnosis of IEI who underwent HSCT between 2007 and 2018. Results: Forty-seven patients were identified, and 5 were re-transplanted. Sixty-eight percent were male. The median age at diagnosis was 0.6 years, and for HSCT was 1.4 years. The most common diseases were chronic granulomatous disease (38%) followed by severe combined immune deficiencies (19%) and hemophagocytic lymphohistiocytosis (15%). Cord blood donors were the most used source of HSCT (44%). T cell-replete grafts from haploidentical donors using post-transplantation cyclophosphamide represent 37% of the cohort. All patients received conditioning, 62% with a non-myeloablative regimen. Calcineurin inhibitors were the main graft-versus-host disease prophylaxis (63.8%). Acute graft-versus-host disease developed in 35% of the total patients. The most frequent post-transplant infections were viral and fungal infections. The 1-year overall survival rates for the patients who received HSCT from identical, haploidentical, and cord sources were 80%, 72%, and 63%, respectively. The 5-year overall survival was 63%. Conclusions: HSCT is a curative treatment option for some IEI and can be performed with any donor type. Early and timely treatment in referral centers can improve survival. Mención de responsabilidad : Manuela Olaya, Alexis Franco, Mauricio Chaparro, Marcela Estupiñan, David Aristizabal, Natalia Builes-Restrepo, José L Franco, Andrés F Zea-Vera, Mayra Estacio, Eliana Manzi, Estefania Beltran, Paola Perez, Jaime Patiño, Harry Pachajoa & Diego Medina-Valencia Referencia : J Clin Immunol. 2020 Nov;40(8):1116-1123. DOI (Digital Object Identifier) : 10.1007/s10875-020-00856-w PMID : 32880086 En línea : https://link.springer.com/article/10.1007/s10875-020-00856-w Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=5135 Hematopoietic stem cell transplantation in children with inborn errors of immunity: a multi-center experience in Colombia [documento electrónico] / Luz Natalia Builes Restrepo, . - 2020.
Obra : Journal of Clinical Immunology
Idioma : Inglés (eng)
Palabras clave : Hematopoietic stem cell transplantation child haploidentical transplantations pediatrics primary immunodeficiency diseases transplant recipients Resumen : Purpose: To characterize the pediatric population with inborn errors of immunity (IEI) that was treated with hematopoietic stem cell transplantation (HSCT) in three reference centers in Colombia. What have been the characteristics and outcomes of hematopoietic stem cell transplantation in pediatric patients with inborn errors of immunity in three reference care centers in Colombia between 2007 and 2018. Methods: We conducted an observational, retrospective cohort study in children with a diagnosis of IEI who underwent HSCT between 2007 and 2018. Results: Forty-seven patients were identified, and 5 were re-transplanted. Sixty-eight percent were male. The median age at diagnosis was 0.6 years, and for HSCT was 1.4 years. The most common diseases were chronic granulomatous disease (38%) followed by severe combined immune deficiencies (19%) and hemophagocytic lymphohistiocytosis (15%). Cord blood donors were the most used source of HSCT (44%). T cell-replete grafts from haploidentical donors using post-transplantation cyclophosphamide represent 37% of the cohort. All patients received conditioning, 62% with a non-myeloablative regimen. Calcineurin inhibitors were the main graft-versus-host disease prophylaxis (63.8%). Acute graft-versus-host disease developed in 35% of the total patients. The most frequent post-transplant infections were viral and fungal infections. The 1-year overall survival rates for the patients who received HSCT from identical, haploidentical, and cord sources were 80%, 72%, and 63%, respectively. The 5-year overall survival was 63%. Conclusions: HSCT is a curative treatment option for some IEI and can be performed with any donor type. Early and timely treatment in referral centers can improve survival. Mención de responsabilidad : Manuela Olaya, Alexis Franco, Mauricio Chaparro, Marcela Estupiñan, David Aristizabal, Natalia Builes-Restrepo, José L Franco, Andrés F Zea-Vera, Mayra Estacio, Eliana Manzi, Estefania Beltran, Paola Perez, Jaime Patiño, Harry Pachajoa & Diego Medina-Valencia Referencia : J Clin Immunol. 2020 Nov;40(8):1116-1123. DOI (Digital Object Identifier) : 10.1007/s10875-020-00856-w PMID : 32880086 En línea : https://link.springer.com/article/10.1007/s10875-020-00856-w Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=5135 Reserva
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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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Título : Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency Tipo de documento : documento electrónico Autores : Andrea Victoria Restrepo Gouzy, ; Mónica Rosa Trujillo Honeysberg, ; Carlos Guillermo Garcés Samudio, Fecha de publicación : 2017 Títulos uniformes : Journal of Clinical Immunology Idioma : Inglés (eng) Palabras clave : Mycobacteria hypogammaglobulinemia enteropathy IL-12Rβ1 deficiency Resumen : Purpose: Mendelian susceptibility to mycobacterial disease is a rare clinical condition characterized by a predisposition to infectious diseases caused by poorly virulent mycobacteria. Other infections such as salmonellosis and candidiasis are also reported. The purpose of this article is to describe a young boy affected with various infectious diseases caused by Mycobacterium tuberculosis complex, Salmonella sp, Klebsiella pneumonie, Citrobacter sp., and Candida sp, complicated with severe enteropathy and transient hypogammaglobulinemia. Methods: We reviewed medical records and performed flow cytometry staining for lymphocyte populations, lymphocyte proliferation in response to PHA, and intracellular IFN-γ production in T cell PHA blasts in the patient and a healthy control. Sanger sequencing was used to confirm the genetic variants in the patient and relatives. Results: Genetic analysis revealed a bi-allelic mutation in IL12RB1 (C291Y) resulting in complete IL-12Rβ1 deficiency. Functional analysis demonstrated the lack of intracellular production of IFN-γ in CD3+ T lymphocytes from the patient in response to rhIL-12p70. Conclusions: To our knowledge, this is the third patient with MSMD due to IL-12Rβ1 deficiency complicated with enteropathy and hypogammaglobulinemia and the first case of this disease to be described in Colombia. Mención de responsabilidad : Andrés Augusto Arias, Carlos M Perez-Velez, Julio César Orrego, Marcela Moncada-Velez, Jessica Lineth Rojas, Alejandra Wilches, Andrea Restrepo, Mónica Trujillo, Carlos Garcés, Catalina Arango-Ferreira, Natalia González, Carmen Oleaga-Quintas, Diana Fernández, Johana Marcela Isaza-Correa, Diego Eduardo Gongóra, Daniel Gonzalez-Loaiza, Juan Esteban Sierra, Jean Laurent Casanova, Jacinta Bustamante, José Luis Franco Referencia : J Clin Immunol. 2017 Oct;37(7):732-738. DOI (Digital Object Identifier) : 10.1007/s10875-017-0435-1 PMID : 28865061 En línea : https://link.springer.com/article/10.1007%2Fs10875-017-0435-1 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4041 Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency [documento electrónico] / Andrea Victoria Restrepo Gouzy, ; Mónica Rosa Trujillo Honeysberg, ; Carlos Guillermo Garcés Samudio, . - 2017.
Obra : Journal of Clinical Immunology
Idioma : Inglés (eng)
Palabras clave : Mycobacteria hypogammaglobulinemia enteropathy IL-12Rβ1 deficiency Resumen : Purpose: Mendelian susceptibility to mycobacterial disease is a rare clinical condition characterized by a predisposition to infectious diseases caused by poorly virulent mycobacteria. Other infections such as salmonellosis and candidiasis are also reported. The purpose of this article is to describe a young boy affected with various infectious diseases caused by Mycobacterium tuberculosis complex, Salmonella sp, Klebsiella pneumonie, Citrobacter sp., and Candida sp, complicated with severe enteropathy and transient hypogammaglobulinemia. Methods: We reviewed medical records and performed flow cytometry staining for lymphocyte populations, lymphocyte proliferation in response to PHA, and intracellular IFN-γ production in T cell PHA blasts in the patient and a healthy control. Sanger sequencing was used to confirm the genetic variants in the patient and relatives. Results: Genetic analysis revealed a bi-allelic mutation in IL12RB1 (C291Y) resulting in complete IL-12Rβ1 deficiency. Functional analysis demonstrated the lack of intracellular production of IFN-γ in CD3+ T lymphocytes from the patient in response to rhIL-12p70. Conclusions: To our knowledge, this is the third patient with MSMD due to IL-12Rβ1 deficiency complicated with enteropathy and hypogammaglobulinemia and the first case of this disease to be described in Colombia. Mención de responsabilidad : Andrés Augusto Arias, Carlos M Perez-Velez, Julio César Orrego, Marcela Moncada-Velez, Jessica Lineth Rojas, Alejandra Wilches, Andrea Restrepo, Mónica Trujillo, Carlos Garcés, Catalina Arango-Ferreira, Natalia González, Carmen Oleaga-Quintas, Diana Fernández, Johana Marcela Isaza-Correa, Diego Eduardo Gongóra, Daniel Gonzalez-Loaiza, Juan Esteban Sierra, Jean Laurent Casanova, Jacinta Bustamante, José Luis Franco Referencia : J Clin Immunol. 2017 Oct;37(7):732-738. DOI (Digital Object Identifier) : 10.1007/s10875-017-0435-1 PMID : 28865061 En línea : https://link.springer.com/article/10.1007%2Fs10875-017-0435-1 Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4041 Reserva
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Título : A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis Tipo de documento : documento electrónico Autores : Ruth María Eraso Garnica, ; Carolina Echeverri Jaramillo, Fecha de publicación : 2015 Títulos uniformes : Journal of Clinical Immunology Idioma : Inglés (eng) Palabras clave : Perforin novel mutation NK cells familial hemophagocytic lymphohistiocytosis type 2 bioinformatics PRF1 gene Resumen : Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2) results from mutations in PRF1. We described two unrelated individuals who presented with FHL, in whom severely impaired NK cytotoxicity and decrease perforin expression was observed. DNA sequencing of PRF1 demonstrated that both were not only heterozygous for the p.54R > C/91A > V haplotype but also presented with the novel variant p.47G > V at the perforin protein. Perforin mRNA was found to be increased in a individual with that genotype. A carrier of the novel variant also demonstrated altered perforin mRNA and protein expression. Phylogenetic analysis and multiple alignments with perforin orthologous demonstrated a high level of conservation at Gly47. PolyPhen-2 and PROVEAN predicted p.47G > V to be “probably damaging” and “deleterious”, respectively. A thermodynamic analysis showed that this variant was highly stabilizing, decreasing the protein internal energy. The ab initio perforin molecular modeling indicated that Gly47 is buried inside the hydrophobic core of the MACPF domain, which is crucial for the lytic pore formation and protein oligomerization. After the in silico induction of the p.47G > V mutation, Val47 increased the interactions with the surrounding amino acids due to its size and physical properties, avoiding a proper conformational change of the domain. To our knowledge, this is the first description supporting that p.47G > V is a pathogenic variant that in conjunction with p.54R > C/91A > V might result in the clinical phenotype of FHL2. Mención de responsabilidad : Camilo Andrés Pérez Romero, Isaura Pilar Sánchez, Sebastian Gutierrez-Hincapié, Jesús A Álvarez-Álvarez, Jaime Andres Pereañez, Rodrigo Ochoa, Carlos Enrique Muskus-López, Ruth G Eraso, Carolina Echeverry, Catalina Arango, José Luis Franco Restrepo, Claudia Milena Trujillo-Vargas Referencia : J Clin Immunol. 2015 Jul;35(5):501-11. DOI (Digital Object Identifier) : 10.1007/s10875-015-0169-x PMID : 25975970 En línea : https://link.springer.com/article/10.1007/s10875-015-0169-x Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4586 A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis [documento electrónico] / Ruth María Eraso Garnica, ; Carolina Echeverri Jaramillo, . - 2015.
Obra : Journal of Clinical Immunology
Idioma : Inglés (eng)
Palabras clave : Perforin novel mutation NK cells familial hemophagocytic lymphohistiocytosis type 2 bioinformatics PRF1 gene Resumen : Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2) results from mutations in PRF1. We described two unrelated individuals who presented with FHL, in whom severely impaired NK cytotoxicity and decrease perforin expression was observed. DNA sequencing of PRF1 demonstrated that both were not only heterozygous for the p.54R > C/91A > V haplotype but also presented with the novel variant p.47G > V at the perforin protein. Perforin mRNA was found to be increased in a individual with that genotype. A carrier of the novel variant also demonstrated altered perforin mRNA and protein expression. Phylogenetic analysis and multiple alignments with perforin orthologous demonstrated a high level of conservation at Gly47. PolyPhen-2 and PROVEAN predicted p.47G > V to be “probably damaging” and “deleterious”, respectively. A thermodynamic analysis showed that this variant was highly stabilizing, decreasing the protein internal energy. The ab initio perforin molecular modeling indicated that Gly47 is buried inside the hydrophobic core of the MACPF domain, which is crucial for the lytic pore formation and protein oligomerization. After the in silico induction of the p.47G > V mutation, Val47 increased the interactions with the surrounding amino acids due to its size and physical properties, avoiding a proper conformational change of the domain. To our knowledge, this is the first description supporting that p.47G > V is a pathogenic variant that in conjunction with p.54R > C/91A > V might result in the clinical phenotype of FHL2. Mención de responsabilidad : Camilo Andrés Pérez Romero, Isaura Pilar Sánchez, Sebastian Gutierrez-Hincapié, Jesús A Álvarez-Álvarez, Jaime Andres Pereañez, Rodrigo Ochoa, Carlos Enrique Muskus-López, Ruth G Eraso, Carolina Echeverry, Catalina Arango, José Luis Franco Restrepo, Claudia Milena Trujillo-Vargas Referencia : J Clin Immunol. 2015 Jul;35(5):501-11. DOI (Digital Object Identifier) : 10.1007/s10875-015-0169-x PMID : 25975970 En línea : https://link.springer.com/article/10.1007/s10875-015-0169-x Enlace permanente : https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_display&id=4586 Reserva
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