Abstracts of the LASID (Latin American Society for Immunodeficiencies) Meeting 2013. October 17-19, 2013. Santiago, Chile.

摘要

Introduction: The hyper-IgE syndrome (HIES), OMM #147060 is a primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES includes nonimmunologic manifestations, like: characteristic fece, pathologic dentition, scoliosis, bone alterations and hyperextensible joins. HIES can be transmitted as an auto-somal dominant trait (AD) with variable expressivity. The only reported cause, so far, in the AD is the loss of function of the Signal Transducer and Activator of Transcription 3 (STAT-3), MIM #102582. Objective: To correlate mutations by domain in patients with HIES and STAT-3 phosphorylation in B cell after stimulation with EL-6 and IL-21. Methods: Seven patients with established diagnosis of autosomal dominant HIES and more than 40 points in the NIH scoring system were included. Patients were previously se-quenced to determine genotype. To evaluate the pathways of IL-6, IL-21, PBMCs were stimulated with rhIL-6 and rhIL-21 for 15 min and phosphorylation of STAT-3 was evaluated by flow cytometry. Results: The patients showed low phosphorylation of STAT-3 after 15 min stimulation with both interleukins. The patients with mutations in the SH2 domain in STAT-3 showed the lowest phosphorylation. Conclusion: The low phosphorylation of STAT-3 observed in HIES patients with mutations in SH2 suggested that this domain have an important role its recruitment to the receptors and subsequent phosphorylation of the STAT-3 monomer.