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http://hdl.handle.net/10553/48639
| Título: | Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives | Autores/as: | Cardenes, María von Bernuth, Horst García-Saavedra, Ayoze Santiago Garcia, Dunia Esther Puel, Anne Ku, Cheng Lung Emile, Jean François Picard, Capucine Casanova, Jean Laurent Colino, Elena Bordes, Ana Garfia, Antonio Rodríguez-Gallego, Carlos |
Clasificación UNESCO: | 32 Ciencias médicas 320102 Genética clínica 320110 Pediatría |
Palabras clave: | Immunologic Deficiency Syndromes Interleukin-1 Intracellular Signaling Peptides and Proteins |
Fecha de publicación: | 2006 | Publicación seriada: | Journal of Pediatrics | Resumen: | We report a kindred with autosomal recessive interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency in 3 fourth-degree relatives. A diagnosis of IRAK-4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance. | URI: | http://hdl.handle.net/10553/48639 | ISSN: | 0022-3476 | DOI: | 10.1016/j.jpeds.2005.12.012 | Fuente: | Journal of Pediatrics[ISSN 0022-3476],v. 148, p. 549-551 (Abril 2006) |
| Colección: | Artículos |
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