摘要
We report a kindred with autosomal recessive interleukin- 1 receptor- associated kinase 4 (IRAK- 4) deficiency in 3 fourthdegree 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.
We report a kindred with autosomal recessive interleukin- 1 receptor- associated kinase 4 (IRAK- 4) deficiency in 3 fourthdegree 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.
