title: Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints.
abstract: OBJECTIVE
  Hyper-IgD syndrome (HIDS) is a rare autosomal recessive disease characterized by recurrent fever, lymphadenopathy, diarrhoea, abdominal pain, headache, arthralgia and skin rash. Abdominal symptomatology may mimic inflammatory bowel disease. We report on four patients with HIDS who had been previously investigated for Crohn's disease (CD). The levels of IgD were measured in a series of patients with CD to evaluate the specificity of this assay in the differential diagnosis between the two conditions.
  
  
  METHODS
  Diagnosis of HIDS was based on clinical criteria as well as immunological or genetic data. IgD levels were measured in the four subjects affected by HIDS, in 59 patients with CD and in a group of 160 healthy controls.
  
  
  RESULTS
  All patients underwent a variety of gastroenterological investigations because inflammatory bowel disease was suspected. Ultrasonography was pathologic in all the patients, showing enlargement of mesenteric lymph nodes. Abdominal leucocyte scintigraphy displayed diffuse signals of mild to moderate degree. IgD and IgA levels were elevated in three out of four patients. No difference in IgD values was found in CD patients as compared to the control group.
  
  
  CONCLUSIONS
  Gastrointestinal complaints associated with recurrent fever and mesenteric adenopathy warrant genetic investigation for HIDS, in order to avoid unnecessary invasive investigations and treatment.
authors.affiliation: Children's Hospital IRCCS Burlo Garofolo, Department of Sciences of Reproduction and Development, University of Trieste, Trieste, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Oretti
authors.forename: Egidio
authors.initials: E
authors.lastname: Barbi
authors.forename: Federico
authors.initials: F
authors.lastname: Marchetti
authors.forename: Loredana
authors.initials: L
authors.lastname: Lepore
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ventura
authors.forename: Andrea
authors.initials: A
authors.lastname: D'Osualdo
authors.forename: Marco
authors.initials: M
authors.lastname: Gattorno
authors.forename: Stefano
authors.initials: S
authors.lastname: Martelossi
authors.forename: Alberto
authors.initials: A
authors.lastname: Tommasini
mesh_terms: D002648:Child; D002675:Child, Preschool; D003424:Crohn Disease / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D005767:Gastrointestinal Diseases / Q000150:complications; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis* / Q000000981:diagnostic imaging; D007072:Immunoglobulin D / Q000097:blood; D007249:Inflammation / Q000175:diagnosis; D008198:Lymph Nodes / Q000000981:diagnostic imaging; D008297:Male; D014463:Ultrasonography
chemical_list: D007072:Immunoglobulin D