Cardenes María, von Bernuth Horst, García-Saavedra Ayoze, Santiago Esther, Puel Anne, Ku Cheng-Lung, Emile Jean-François, Picard Capucine, Casanova Jean-Laurent, Colino Elena, Bordes Ana, Garfia Antonio, Rodríguez-Gallego Carlos
Department of Immunology and Microbiology, Gran Canaria Dr. Negrín University Hospital, Seville, Spain.
J Pediatr. 2006 Apr;148(4):549-51. doi: 10.1016/j.jpeds.2005.12.012.
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.
我们报告了一个家系，其中3名四代亲属患有常染色体隐性白细胞介素-1受体相关激酶4（IRAK-4）缺陷症。对于患有侵袭性细菌疾病的家庭，即使受影响的个体亲缘关系较远，也应考虑诊断为IRAK-4缺陷症，这错误地提示了低外显率的多基因或显性遗传。
