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Clinical Findings of Patients with Autonomal Dominant Hyper IgE Syndrome (HIES) in Usidnet
Sunday, March 5, 2017
Exhibit Hall B2 (Georgia World Congress Center, Building B)
Yael Gernez, MD PhD, Elizabeth Garabedian, RN, Angela Tsuang, MD MS, Tukisa Smith, MD, MS, Julien Mansini, MD MS, Charlotte Cunningham-Rundles, MD PhD
Rationale: Autosomal dominant mutations in STAT3 lead to HIES. Since HIES is a rare condition, it is difficult to study the characteristics of these patients.  Pneumonia with cavitation/abscess leading to pneumatoceles and secondary fungal infections are major causes of mortality and morbidity in patients with HIES.

Methods: We examined the clinical and biological findings of patients with HIES entered in USIDNET, focusing on patients with lung abscess.

Results: 85 patients, born between 1950 and 2013 were entered in USIDNET. 58.8% (50/85) were female and 41.1% (35/85) were male. 62.3% (53/85) were Caucasian, 15.3%(13/85) Hispanic or African American, 13% (11/85) Asian and 8% (7/85) were unknown.  54.2% (45/83) had family history of HIES. Mean age at diagnosis of HIES was 14 years (standard deviation: 13.9), mean IgE: 8,383.7mg/dL (standard deviation: 10,050). 72% (32/85) had skin abscesses, 40% (34/85) had retained teeth, 37.6% (32/85) had fractures and 33% (28/85) had scoliosis. 49.4% (42/85) had eosinophilia. 47.0% (40/85) were known to be on trimethoprim-sulfamethoxazole, 16.4% (14/85) on antifungal coverage, and 30.60% (26/85) on immunoglobulin replacement therapy. Pneumonias were attributed to Staphylococcus aureus (45.3%-24/53) or Aspergillus fumigatus (26.4%-14/53). 18.8% (16/85) had a history of lung abscess. Lung abscesses were associated with drug reactions (p[χ2]=0.01; OR: 4.03 [1.2-12.97), also with significantly more depression (p[Fisher's exact test]=0.036 and lower Karnofsky index scores (median [25th­75th percentiles]: 80 [70-90] versus 90 [80-100], p[Mann-Whitney]=0.007). 

Conclusions: Data from USIDNET provides a resource to examine the characteristics of patients with these rare diseases.