Primary Immunodeficiency via the IRAK4 Gene

Testing for IRAK4 deficiency may be considered in young children with severe, recurrent, invasive bacterial infections, particularly S. pneumoniae, S. aureus, and P. aeruginosa. Targeting testing for known familial variants in family members may also be considered. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in IRAK4.