864 Screening of Interleukin-1 Receptorassociated Kinase 4 Deficiency in Patients with History of Severe Pneumococcal Infections

Abstract

Introduction: Interleukin-1 receptor-associated kinase 4 (IRAK4) deficiency is animmunodeficiency disorder of the innate immune system resulting from inhibition ofToll-like receptor-mediated pathways. Some patients with IRAK4 deficiency experiencesevere bacterial infections until they reach three years of age; the infections weakenafter the age of four or five years. Therefore, the prevention of bacterial infection is apriority in the first three years of life for patients with IRAK4 deficiency. TNF-αproduction is almost completely inhibited in mononuclear cells after stimulation withlipopolysaccharide in IRAK4 deficiency. Consequently, TNF-α production can be usedas an early screen of IRAK4 deficiency in response to lipopolysaccharide in patientswith severe pneumococcal infection.

Method: Nine patients who had experienced severe pneumococcal meningitis or sepsis were included in this study. The three males and six females ranged from 7 months to 21 years. IRAK4 deficiency was assayed by measuring the TNF-α production of mononuclear cells using flow cytometry following the stimulation of peripheral blood cells with lipopolysaccharide (J. Pediatr 2006; 148:546).

Result: All nine patients showed normal TNF-α production (84.8 - 97.4%).

Conclusion: None of the patients exhibited IRAK4 deficiency. However, due to thesmall number of subjects, further study using this screening method with a largernumber of participants may detect latent IRAK4 deficiency in patients.

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