Homozygous carrier of the NOD2 1007fs frame-shift mutation presenting with refractory community-acquired spontaneous bacterial peritonitis and developing fatal pulmonary mucormycosis: A case report.

Genetic variants of the innate immune system contribute to episodes of spontaneous bacterial peritonitis (SBP) in patients with cirrhosis. We herein report the case of a patient with the homozygous nucleotide-binding oligomerization domain containing 2 (NOD2) frame-shift mutation 1007fs presenting with sepsis and community-acquired SBP by Escherichia coli. Secondary peritonitis, pancreatic ascites and malignant causes were excluded by extensive diagnostic work-up. First-line treatment with ceftriaxone was not successful despite in vitro sensitivity of the isolated strain. Despite prolonged second-line treatment with imipenem/cilastatin and intermittent ascites drainage, the ascitic fluid neutrophil count remained markedly elevated in this patient. In the course of the disease the patient developed pneumonia with identification of the typical hyphae of mucormycosis in the bronchoalveolar lavage and died of sepsis with multi-organ failure. On the basis of this observation, variants of the innate immunity have to be considered in therapy-refractory SBP, even when they are community-acquired and caused by cephalosporin-sensitive Enterobacteriaceae.