| 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 ImmunologyIdioma : 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 |
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Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency
