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J Pediatr. 2006 Apr;148(4):549-51.

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

Author information

1
Department of Immunology and Microbiology, Gran Canaria Dr. Negrín University Hospital, Seville, Spain.

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.

PMID:
16647422
DOI:
10.1016/j.jpeds.2005.12.012
[Indexed for MEDLINE]

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