Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives.
case_report · Level V
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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.
Medical subject headings
- Family Health
- Genes, Recessive
- Immunologic Deficiency Syndromes
- Intracellular Signaling Peptides and Proteins
- Protein Serine-Threonine Kinases