Assessment of coronary wall thickening in autosomal dominant hyper- immunoglobin E syndrome (AD-HIES) using TRAPD-MRI
نویسندگان
چکیده
Background Autosomal dominant hyper-IgE (AD-HIES), also called Job’s syndrome, is a rare primary immunodeficiency caused by dominant mutations in STAT3. AD-HIES is characterized by elevated levels of IgE, an ineffective immune response to several infectious agents, and connective tissue and arterial abnormalities. To date, coronary artery evaluation in AD-HIES patients has been limited to lumenography by CTA or MRA. Direct in vivo coronary vessel wall imaging may allow for earlier detection of coronary artery disease, possibly at the subclinical stage, and may lead to more accurate assessment of treatment efficacy. The goal of this prospective study was to evaluate the coronary artery walls of AD-HIES patients using MRI and compare to healthy subjects and subjects with known coronary artery disease.
منابع مشابه
Autosomal dominant hyper-IgE syndrome
Th e hyper-IgE recurrent infection syndromes (HIES) comprise a group of primary immunodefi ciency dis orders that exhibit markedly elevated IgE levels, recur rent staphylococcal skin abscesses, eczema and pulmonary infections. Both autosomal dominant and autosomal recessive forms of the disorder have been described. Most autosomal dominant HIES (AD-HIES) have been found to be due to mutations i...
متن کاملPediatric anaphylaxis and hyper IgE syndrome
Patients with autosomal-dominant (AD) hyper immunoglobulin E (IgE) syndrome (HIES) or Job syndrome develop frequent dermatologic and pulmonary infections. As patients have an extreme elevation of IgE levels, this database analysis study sought to study the association between AD HIES, Job syndrome, and anaphylaxis. HIES is a heterogeneous group of immune disorders characterized by extremely ele...
متن کاملMolecular Typing of Staphylococcus aureus Isolated from Patients with Autosomal Dominant Hyper IgE Syndrome
Autosomal dominant hyper IgE syndrome (AD-HIES) is a primary immunodeficiency caused by a loss-of-function mutation in the Signal Transducer and Activator of Transcription 3 (STAT3). This immune disorder is clinically characterized by increased susceptibility to cutaneous and sinopulmonary infections, in particular with Candida and Staphylococcus aureus. It has recently been recognized that the...
متن کاملFunctional Defects in Type 3 Innate Lymphoid Cells and Classical Monocytes in a Patient with Hyper-IgE Syndrome
Hyper-IgE syndrome (HIES) is a very rare primary immune deficiency characterized by elevated serum IgE levels, recurrent bacterial infections, chronic dermatitis, and connective tissue abnormalities. Autosomal dominant (AD) HIES involves a mutation in signal transducer and activator of transcription 3 (STAT3) that leads to an impaired TH17 response. STAT3 signaling is also involved in the funct...
متن کاملLearning from Job: A Rare Genetic Disease and Lessons of Biblical Proportions
Dominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES). The original name for this syndrome, Job's syndrome, was derived from the observation that patients had a propensity to develop skin boils, reminiscent...
متن کامل