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Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency / Andrea Victoria Restrepo Gouzy ; Mónica Rosa Trujillo Honeysberg ; Carlos Guillermo Garcés Samudio
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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