Early Severe Pseudomonas Infections Revealing MyD88 Deficiency in Two Siblings: A Case Report

MyD88 deficiency is an innate immune deficiency that confers susceptibility to bacterial infections, particularly S. pneumoniae , S. aureus , and P. aeruginosa . This autosomal recessive deficiency was first described in 2008 by Van Bernuth et al. Most infections occur before the age of two and can be fatal in 35%. Fever and elevated inflammatory markers are not always present when infection occurs, making the diagnosis difficult. Here, we report two cases within the same family. The first patient presented with peritonitis and liver abscesses due to Pseudomonas aeruginosa infection at 1 month of age, and the second patient had endophthalmitis complicated by bacteremia and meningitis due to Pseudomonas aeruginosa at 20 days of age. These cases highlight the importance of considering MyD88 deficiency in neonates with severe bacterial infections, even without classic inflammatory signs.