IRAK4 deficiency

Three unrelated children with IRAK4 deficiency developed multiple life-threatening infections with pyogenic bacteria, with no developmental signs such as EDA, osteopetrosis or lymphoedema. These patients were mostly infected with encapsulated Gram-positive S. pneumoniae and S.aureus bacteria. No infections with H. influenzae were reported, but one patient presented severe infections with other Gram-negative bacteria. These infection occured early in life, but the condition improved with age.

Diagnostic laboratories



Therapeutic options