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.
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.
Authors: Catherine M Gordon; Laura K Bachrach; Thomas O Carpenter; Nicola Crabtree; Ghada El-Hajj Fuleihan; Stepan Kutilek; Roman S Lorenc; Laura L Tosi; Katherine A Ward; Leanne M Ward; Heidi J Kalkwarf Journal: J Clin Densitom Date: 2008 Jan-Mar Impact factor: 2.617
Authors: Zhiyuan Zhang; Thomas Welte; Nancy Troiano; Stephen E Maher; Xin-Yuan Fu; Alfred L M Bothwell Journal: Biochem Biophys Res Commun Date: 2005-03-18 Impact factor: 3.575
Authors: Cristina Woellner; E Michael Gertz; Alejandro A Schäffer; Macarena Lagos; Mario Perro; Erik-Oliver Glocker; Maria C Pietrogrande; Fausto Cossu; José L Franco; Nuria Matamoros; Barbara Pietrucha; Edyta Heropolitańska-Pliszka; Mehdi Yeganeh; Mostafa Moin; Teresa Español; Stephan Ehl; Andrew R Gennery; Mario Abinun; Anna Breborowicz; Tim Niehues; Sara Sebnem Kilic; Anne Junker; Stuart E Turvey; Alessandro Plebani; Berta Sánchez; Ben-Zion Garty; Claudio Pignata; Caterina Cancrini; Jiri Litzman; Ozden Sanal; Ulrich Baumann; Rosa Bacchetta; Amy P Hsu; Joie N Davis; Lennart Hammarström; E Graham Davies; Efrem Eren; Peter D Arkwright; Jukka S Moilanen; Dorothee Viemann; Sujoy Khan; László Maródi; Andrew J Cant; Alexandra F Freeman; Jennifer M Puck; Steven M Holland; Bodo Grimbacher Journal: J Allergy Clin Immunol Date: 2010-02 Impact factor: 10.793