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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2154| Título : | A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child |
| Creador: | Lopez Herrera, Gabriela |
| Nivel de acceso: | Open access |
| Palabras clave : | Animales Secuencia de Bases Ligando de CD40 - genética Ligando de CD40 - inmunología Ligando de CD40 - metabolismo Células CHO Cricetulus Mutación del Sistema de Lectura Humanos Síndrome de Inmunodeficiencia con Hiper-IgM Tipo 1 - metabolismo Lactante Leucocitos Mononucleares Eliminación de Secuencia Transfección Animals Base Sequence CD40 Ligand - genetics CD40 Ligand - immunology CD40 Ligand - metabolism CHO Cells Cricetulus Frameshift Mutation Humans Hyper-IgM Immunodeficiency Syndrome, Type 1 - metabolism Infant Leukocytes, Mononuclear Sequence Deletion Transfection HIGM CD40L Eliminación de Frameshift Proteína truncada HIGM CD40L Frameshift deletion Truncated protein |
| Descripción : | The X-linked hyper-IgM syndrome (XHIGM) is the most common form of HIGM. Patients are clinically diagnosed on the basis of recurrent sinopulmonary infections, accompanied with low levels of IgG and IgA, normal to elevated levels of IgM, and the presence of peripheral B cells. Here, we have reported a novel deletion of four nucleotides in CD40LG exon 3, c.375_378delCAAA, which led to a frameshift mutation with a premature stop codon, p.Asn101*126. The deletion resulted in a truncated protein, in which majority of the extracellular domain was lost. However, detection of surface CD40L was still possible as the intracellular, transmembrane, and part of the extracellular domains were not affected. This indicated that this mutation did not affect protein stability and that immunodetection of CD40L expression is not enough for the diagnosis of XHIGM. Our study strongly suggests that genetic diagnosis for XHIGM should always be performed when clinical data support this diagnosis and CD40L protein is present. © 2015, Springer Science+Business Media New York. |
| Colaborador(es) u otros Autores: | Maravillas Montero José Luis Vargas Hernández Alexander Berrón Ruiz Laura Ramírez Sánchez Emmanuel Yamazaki Nakashimada Marco Antonio Espinosa Rosales Francisco Javier Santos Argumedo Leopoldo |
| Fecha de publicación : | 2015 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1007/s12026-015-8638-0 |
| Fuente: | Immunologic Research 62(1):89 - 94 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2154 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
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