Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism
نویسندگان
چکیده
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 کاملTh17 Lymphocytes Percentage in Peripheral Blood of Iranian Patients with Autosomal Recessive Hyper IgE Syndrome
Background and Aims: Patients with Hyper-IgE syndrome suffer from fungal and bacterial infections, especially Candida albicans and Staphylococcus aureus. Due to the important role of T helper17 (Th17) lymphocytes in defense against fungal infections, the percentage of Th17 lymphocytes was studied in the patients with autosomal recessive hyper-IgE syndrome (AR-HIES). Materials and Methods: In...
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 کاملRecurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation
Background. Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000 IU/mL), eczema, and recurrent staphylococcal skin and lung infections. The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. Case Report. A 23-year-old Hispani...
متن کاملVertebral aspergillosis in a patient with autosomal-dominant hyper-IgE syndrome.
We present a report of an autosomal-dominant hyper-IgE syndrome patient with vertebral aspergillosis. Early diagnosis and antifungal therapy with surgery are crucial for improving the outcome of this aggressive condition.
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2013
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2013.02.038