Journal of Clinical Immunology

, Volume 33, Issue 5, pp 903–908

Reduced Bone Density in Patients with Autosomal Dominant Hyper-IgE Syndrome

  • Oded Scheuerman
  • Vered Hoffer
  • Avner Herman Cohen
  • Cristina Woellner
  • Bodo Grimbacher
  • Ben-Zion Garty
Original Research

Abstract

Background and Purpose

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.

Keywords

Hyper-IgE syndrome bone density osteoporosis 

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Oded Scheuerman
    • 1
  • Vered Hoffer
    • 1
  • Avner Herman Cohen
    • 1
  • Cristina Woellner
    • 2
  • Bodo Grimbacher
    • 2
  • Ben-Zion Garty
    • 1
  1. 1.Department of Pediatrics B and Kipper Institute of Allergy and Immunology, Schneider Children’s Medical Center of Israel, Sackler Faculty of MedicineTel Aviv UniversityPetach TikvaIsrael
  2. 2.Centre of Chronic ImmunodeficiencyUniversity Hospital FreiburgFreiburgGermany

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