IRAK-4 deficiency in a family spanning three generations

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Rare defects in innate immune function are responsible for recurrent invasive infections in some children whose adaptive immune responses are normal. Autosomal inheritance of IRAK-4 deficiency is one such defect. The current report by Cardenes et al of IRAK-4 deficiency due to homozygosity for a novel IRAK4 mutant allele in a child and his two 4^th degree relatives is further enlightening. There was no parental consanguinity. Despite only one of the proband’s parents having heterozygous mutation of IRAK4 gene, the proband and affected relatives had homozygous IRAK4 mutation. History of unusually severe or recurrent infection in family members, even if only over multiple generations, does not exclude autosomal recessively inherited IRAK-4 deficiency.