Liver Abscess Complicated by Diaphragm Perforation and Pleural Empyema Leads to the Discovery of Interleukin-1 Receptor-associated Kinase 4 Deficiency

Abstract

Interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency predisposes to severe invasive bacterial infections in infancy and early childhood, often with a fatal course caused by a defect in Toll-like receptor and interleukin-1 receptor signaling. Despite severe invasive infections, acute phase responses are often diminished. We report the successful treatment of a child with multiple liver abscesses, diaphragm perforation and pleural empyema, accompanied by strong acute phase responses as a unique presentation of IRAK-4 deficiency.

Differential Diagnosis: Hepatic Complications in Inborn Errors of Immunity

“…Although Staphylococcal abscesses are more commonly seen in the skin and lungs in autosomal dominant hyper IgE syndrome, liver abscesses are reported [64]. There are case reports of Staphylococcal abscesses associated with interleukin-1 receptor activated kinase 4 (IRAK4) deficiency [65,66].…”

Septic arthritis or juvenile idiopathic arthritis ‐ the case of a 2 year old boy

“…In TIR‐deficient signaling, septic arthritis may be mistaken for JIA as both are not accompanied by strong acute phase responses. However, patients with deficiencies in TIR signaling may also develop strong acute phase responses if infections take a chronic course . So in pyogenic arthritis, low inflammatory signs are highly suggestive for a defect in TIR‐MyD88‐IRAK4‐NFκB‐mediated signaling, but high inflammatory signs do not exclude such defects.…”

“…Patient's whole blood cells do not produce IL ‐6 upon activation with TLR agonists and IL ‐1 ® , yet produce IL ‐6 normally in response to phorbol myristate acetate ( PMA ) (filled bars) in contrast to normal IL ‐6 production of healthy controls upon activation with PMA , TLR agonists and IL ‐1 ® (white bars). Methods have been previously described .…”