title: Coronary artery abnormalities in Hyper-IgE syndrome.
abstract: OBJECTIVE
  Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency caused by autosomal dominant STAT3 mutations resulting in recurrent infections and connective tissue abnormalities. Coronary artery abnormalities have been reported infrequently. We aimed to determine the frequency and characteristics of coronary artery abnormalities.
  
  
  METHODS
  STAT3-mutated HIES patients (n=38), ranging in age from 8 to 57 years, underwent coronary artery imaging by computed tomography or magnetic resonance imaging. Images were evaluated for tortuosity, dilation, and aneurysm. Charts were reviewed for cardiac risk factors. To allow blinded image interpretation, an age- and gender-matched non-HIES group was also evaluated (n=33).
  
  
  RESULTS
  Coronary artery tortuosity or dilation occurred in 70% of HIES patients, with aneurysms present in 37%, incidences much higher than in the literature and in our non-HIES group, in which 21% had tortuosity or dilation and 3% had aneurysms. Hypertension was more common in the HIES group than in the general population and was associated with vessel abnormalities. Atherosclerosis was uncommon and mild.
  
  
  CONCLUSIONS
  Coronary artery aneurysms and tortuosity are common in HIES, despite a paucity of atherosclerosis, suggesting that STAT3 plays an integral role in human vascular remodeling and atherosclerosis.
authors.affiliation: Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), 10 Center Drive, Bethesda, MD 20892-1899, USA. freemaal@mail.nih.gov
authors.forename: Alexandra F
authors.initials: AF
authors.lastname: Freeman
authors.forename: Elizabeth Mannino
authors.initials: EM
authors.lastname: Avila
authors.forename: Pamela A
authors.initials: PA
authors.lastname: Shaw
authors.forename: Joie
authors.initials: J
authors.lastname: Davis
authors.forename: Amy P
authors.initials: AP
authors.lastname: Hsu
authors.forename: Pamela
authors.initials: P
authors.lastname: Welch
authors.forename: Jatin R
authors.initials: JR
authors.lastname: Matta
authors.forename: Colleen
authors.initials: C
authors.lastname: Hadigan
authors.forename: Roderic I
authors.initials: RI
authors.lastname: Pettigrew
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: Ahmed M
authors.initials: AM
authors.lastname: Gharib
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D015331:Cohort Studies; D003323:Coronary Aneurysm / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D017023:Coronary Angiography; D003324:Coronary Artery Disease / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D003331:Coronary Vessels / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006973:Hypertension / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D007589:Job Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D018810:Magnetic Resonance Angiography; D008297:Male; D008875:Middle Aged; D009154:Mutation; D050796:STAT3 Transcription Factor / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D050796:STAT3 Transcription Factor; C494086:STAT3 protein, human