title: Reduced bone density in patients with autosomal dominant hyper-IgE syndrome.
abstract: OBJECTIVE
  Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare primary immunodeficiency disorder . It has been recognized as a multisystem disorder and is characterized by both immunologic and non-immunologic manifestations. Possible bone involvement in autosomal dominant HIES include fractures, scoliosis, cystic bone changes, and osteopenia. We sought to evaluate the changes in bone density in adolescents and young adults with AD-HIES, mostly with proven STAT3 mutation, followed in our institute.
  
  
  METHODS
  We studied eight patients with AD-HIES who attended our immunology clinic. All patients underwent at least one bone mass dual-energy x-ray absorptiometry assessment (dual-energy x-ray absorptiometry scan).These findings were evaluated.
  
  
  RESULTS
  The age of the patients at the time of their first bone density scan ranged between 10 and 24 years (mean 16.1 ± 4.0 years); the duration of follow-up was 4-11 years (mean 5.8 ± 3.5 years). Four patients had a history of fractures. Mean Z score in these patients was -1.8 ± 0.7. For three patients, Z score was below -1. The other four patients had no history of fractures. Mean Z score in these patients was -0.9 ± 0.5. Only one patient in this group had a Z score below -1. Bone density was below average in all patients; mean spinal Z score was -1.6 ± 0.4. Four patients were followed through the second decade, and all showed progressive deterioration in bone density. Three were treated with alendronate sodium, with improvement in the bone scan results.
  
  
  CONCLUSIONS
  Bone density decreases considerably over time in adolescents and young adults suffering from AD- HIES. Treatment with alendronate sodium may be effective in alleviating osteopenia.
authors.affiliation: Department of Pediatrics B and Kipper Institute of Allergy and Immunology, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Petach Tikva 49202, Israel. odedshv@clalit.org.il
authors.forename: Oded
authors.initials: O
authors.lastname: Scheuerman
authors.forename: Vered
authors.initials: V
authors.lastname: Hoffer
authors.forename: Avner Herman
authors.initials: AH
authors.lastname: Cohen
authors.forename: Cristina
authors.initials: C
authors.lastname: Woellner
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
authors.forename: Ben-Zion
authors.initials: BZ
authors.lastname: Garty
mesh_terms: D015502:Absorptiometry, Photon / Q000379:methods; D000293:Adolescent; D015519:Bone Density; D002648:Child; D005260:Female; D006801:Humans; D007589:Job Syndrome / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D008297:Male; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D055815:Young Adult
chemical_list: D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human