Liver abscess complicated by diaphragm perforation and pleural empyema leads to the discovery of interleukin-1 receptor-associated kinase 4 deficiency.
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.
From the *Department of General Pediatrics and Neonatology, Saarland University Medical Center, Homburg/Saar; †Department of Pediatric Pulmonology and Immunology, Charité Hospital, Humboldt University; ‡Department of Immunology, Laboratory Berlin Charité Vivantes, Berlin; §Departments of Pediatric Oncology and Hematology, and ¶Diagnostic and Interventional Radiology, Saarland University Medical Center, Homburg/Saar; ‖Institute of Transfusion Medicine, University of Ulm; **Institute of Clinical Transfusion Medicine and Immunogenetics, German Red-Cross Blood Service Baden-Württemberg-Hessen, Ulm; and ††Department of Pediatric Surgery, Saarland University Medical Center, Homburg/Saar, Germany.
Dominik
D
Schöndorf
Horst
H
von Bernuth
Arne
A
Simon
Günther
G
Schneider
Uwe
U
Kölsch
Klaus
K
Schwarz
Clemens-Magnus
CM
Meier
Jörg
J
Groe-Onnebrink
Ludwig
L
Gortner
Tilman R
TR
Rohrer
D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D003964:Diaphragm / Q000473:pathology*; D016724:Empyema, Pleural / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053592:Interleukin-1 Receptor-Associated Kinases / Q000172:deficiency*; D015850:Interleukin-6 / Q000097:blood; D008100:Liver Abscess / Q000150:complications* / Q000209:etiology* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D011860:Radiography, Abdominal; D013902:Radiography, Thoracic; D016511:Severe Combined Immunodeficiency / Q000150:complications*; D016896:Treatment Outcome
D000900:Anti-Bacterial Agents; D015850:Interleukin-6; C507773:IRAK4 protein, human; D053592:Interleukin-1 Receptor-Associated Kinases