Interleukin 1 Receptor Associated Kinase 4 (IRAK-4) Deficiency can result in impaired host defenses with recurrent bacterial infections that can be life-threatening.
Chromosome: 12q12
Gene: IRAK-4 (interleukin-1 receptor associated kinase 4)
Function: activates the NF-kappaB in Toll-like receptor and T-cell receptor signaling pathways
Inheritance: autosomal recessive
Onset: as a neonate or infant
Clinical Features:
(1) recurrent bacterial infections that may be noninvasive or invasive, primarily of the skin or respiratory tract, with invasive infections causing sepsis
(2) systemic signs of inflammation are weak or delayed
(3) normal host response to fungi, parasites, viruses and many bacteria
Bacterial pathogens to which the patient may be susceptible:
(1) Streptococcus pneumoniae
(2) Pseudomonas aeruginosa
(3) Staphylococcus aureus
(4) Hemophilus influenzae
(5) Neisseria meningitidis
Aggressive management during childhood can be effective:
(1) early, empiric antibiotic therapy
(2) vaccination
(3) IgG infusion
