title: Two patients with intestinal failure requiring home parenteral nutrition, a NOD2 mutation and tuberculous lymphadenitis.
abstract: BACKGROUND
  Mutations in the NOD2 gene are a significant risk factor to acquire intestinal failure requiring home parenteral nutrition. Tuberculous lymphadenitis is the main manifestation of extrapulmonary tuberculosis. Defects in the innate immunity, including NOD2 mutations, may increase the risk for acquiring infections caused by M. tuberculosis. An association of intestinal failure, mutations in the NOD2 gene and tuberculous lymphadenitis has not been described before.
  
  
  METHODS
  We report of two patients with intestinal failure secondary to mesenteric ischemia. Both patients presented with fever and weight loss while receiving long term home parenteral nutrition. Both of them were found to have mutations in the NOD2 gene. Catheter related infections were ruled out. FDG-PET-CT scans initially obtained in search for another infectious focus that would explain the symptoms unexpectedly showed high FDG uptake in mediastinal lymph nodes. Direct or indirect evidence proved or was highly suggestive for tuberculous lymphadenitis. Intravenous tuberculostatic therapy was started and led to a reversal of symptoms and to resolution of the lesions by FDG-PET-CT.
  
  
  CONCLUSIONS
  Mutations in the NOD2 gene may put patients both at an increased risk for acquiring M. tuberculosis infections as well as at an increased risk of intestinal failure after extensive intestinal resection. Thus we suggest to specifically include reactivated and opportunistic infections in the differential diagnosis of suspected catheter related infection in patients with intestinal failure who carry mutations in their NOD2 gene.
authors.forename: Holger
authors.initials: H
authors.lastname: Schäffler
authors.forename: Matthias
authors.initials: M
authors.lastname: Teufel
authors.forename: Sabrina
authors.initials: S
authors.lastname: Fleischer
authors.forename: Chih-Jen
authors.initials: CJ
authors.lastname: Hsieh
authors.forename: Julia-Stefanie
authors.initials: JS
authors.lastname: Frick
authors.affiliation: Division of Gastroenterology, Department of Medicine II, University of Rostock, Ernst-Heydemann-Str, 6, D-18057 Rostock, Germany. georg.lamprecht@med.uni-rostock.de.
authors.forename: Georg
authors.initials: G
authors.lastname: Lamprecht
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007410:Intestinal Diseases / Q000150:complications / Q000235:genetics / Q000628:therapy*; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D016331:Parenteral Nutrition, Home; D014388:Tuberculosis, Lymph Node / Q000150:complications* / Q000188:drug therapy
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein