Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives

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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