IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

Primary immune deficiencies are genetic defects of the innateor adaptive immune systemresulting in a propensity to infections. The innate immune systemis the first line of defense against pathogens, and is critical to recognize microbesand start the inflammatory cascade. Sensing of microbesoccurs by a number of pathogen recognition receptors, resulting in the activation of inflammatory signal transductionpathways, such as the activation of NF-B. Herein we describe a case of IRAK4deficiency, a key signal transductionmolecule of toll-like and IL-1 receptors. We highlight the complexities in diagnosis of these disorders, and review genetic defects of the NFB pathway.