Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives
作者： María Cardenes , Horst von Bernuth , Ayoze García-Saavedra , Esther Santiago , Anne Puel
DOI: 10.1016/J.JPEDS.2005.12.012
关键词:
摘要: 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 should be considered families invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance low penetrance.
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