Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/48639
Title: Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives
Authors: 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 
UNESCO Clasification: 32 Ciencias médicas
320102 Genética clínica
320110 Pediatría
Keywords: Immunologic Deficiency Syndromes
Interleukin-1
Intracellular Signaling Peptides and Proteins
Issue Date: 2006
Journal: Journal of Pediatrics 
Abstract: 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
Source: Journal of Pediatrics[ISSN 0022-3476],v. 148, p. 549-551 (Abril 2006)
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