Por favor, use este identificador para citar o enlazar este ítem:
http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2180| Título : | Clinical and mutational features of X-linked agammaglobulinemia in Mexico |
| Creador: | García García E |
| Nivel de acceso: | Open access |
| Palabras clave : | Agammaglobulinemia - complicaciones Agammaglobulinemia - diagnóstico Agammaglobulinemia - genética Agammaglobulinemia - patología Artritis - complicaciones Enfermedades Genéticas Ligadas al Cromosoma X - complicaciones Enfermedades Genéticas Ligadas al Cromosoma X - diagnóstico Enfermedades Genéticas Ligadas al Cromosoma X - genética Enfermedades Genéticas Ligadas al Cromosoma X -patología Humanos Inmunoglobulina A - sangre Inmunoglobulina A - genética Inmunoglobulina G sangre Inmunoglobulina G - genética Inmunoglobulina M, sangre Inmunoglobulina M - genética México Mutación Missense - genética Agammaglobulinemia - complications Agammaglobulinemia - diagnosis Agammaglobulinemia - genetics Agammaglobulinemia - pathology Arthritis - complications Genetic Diseases, X-Linked -complications Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - pathology Humans Immunoglobulin A - blood Immunoglobulin A - genetics Immunoglobulin G - blood Immunoglobulin G - genetics Immunoglobulin M - blood Immunoglobulin M - genetics Mexico Mutation, Missense - genetics BTK; Mutaciones sin sentido; Empalme de sitio; Agammaglobulinemia X-ligado Btk; Missense mutations; Splice site; X-linked agammaglobulinemia |
| Descripción : | X-linked agammaglobulinemia (XLA) is caused by BTK mutations, patients typically show <. 2% of peripheral B cells and reduced levels of all immunoglobulins; they suffer from recurrent infections of bacterial origin; however, viral infections, autoimmune-like diseases, and an increased risk of developing gastric cancer are also reported. In this work, we report the BTK mutations and clinical features of 12 patients diagnosed with XLA. Furthermore, a clinical revision is also presented for an additional cohort of previously reported patients with XLA. Four novel mutations were identified, one of these located in the previously reported mutation refractory SH3 domain. Clinical data support previous reports accounting for frequent respiratory, gastrointestinal tract infections and other symptoms such as the occurrence of reactive arthritis in 19.2% of the patients. An equal proportion of patients developed septic arthritis; missense mutations and mutations in SH1, SH2 and PH domains predominated in patients who developed arthritis. © 2016 Elsevier Inc. |
| Colaborador(es) u otros Autores: | Staines-Boone At Vargas-Hernández A González-Serrano Me Carrillo-Tapia E Mogica-Martínez D Berrón-Ruíz L Segura-Mendez Nh Espinosa-Rosales Fj Yamazaki-Nakashimada Ma Santos-Argumedo L López-Herrera G |
| Fecha de publicación : | 2016 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1016/j.clim.2016.02.010 |
| Fuente: | Clinical Immunology 165():38 - 44 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2180 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
Ficheros en este ítem:
No hay ficheros asociados a este ítem.
Los ítems de DSpace están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.