چاپ صفحه |  صفحه نخست سامانه |  نویسندگان |  اطلاعات تفضیلی |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده | نفر چندم مقاله |
|---|---|
| شبنم اسکندرزاده | اول |
| عنوان | متن |
|---|---|
| خلاصه مقاله | Since 2017 IUIS report, the term “Inborn Errors of Immunity” replaced Primary Immunodeficiencies. IEI present clinically as increased susceptibility to infections, autoimmunity, autoinfammatory diseases, allergy, bone marrow failure, malignancy. IEI are currently categorized into 10 Tables, combinedimmunodeficiencies , combined immunodefciencies with syndromic features , predominantly antibody defciencies , diseases of immune dysregulation, congenital defects of phagocytes , defects in intrinsic and innate immunity , autoinfammatory diseases , complement defciencies , bone marrow failure , and phenocopies of inborn errors of immunity. Genetic variants cause disease by altering the encoded gene product, such as by abolishing or reducing protein expression and function (null/hypomorphic) or modifying the protein to acquire gain-of-function (GOF). With improved gene transfer methods, including higher titers of retroviral vectors, clinical benefits such as meaningful immune reconstitution was observed in the majority of treated patients for XSCID without use of conditioning, and for ADA SCID, CGD and WAS patients using reduced-intensity conditioning. Crucially, once recognised, PIDs are treatable and in some cases curable. Early recognition of PIDs, based on the clinical signs and symptoms, is therefore essential, because the right treatment can often prevent the development of further complications. GPs have a crucial role in identifying patients with suspected PIDs and in referring them for specialist diagnosis, assessment and care. It is vital therefore that GPs are alert to the warning signs and recognise the pattern. Live vaccines (e.g. BCG, MMR, Rotavirus…) are absolutely contraindicated. Patients with SCID requiring blood or platelet transfusion should always get irradiated (CMV-negative, leukocyte-depleted) products. |
| کلمات کلیدی | Inborn Errors ،Immunity، updates |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| Tabriz.Tazehaha.mordad.pdf | 1402/11/27 | 101245 | دانلود |
| Taze.Ar.pdf | 1402/11/28 | 80820 | دانلود |
| Taze.A.pdf | 1402/11/28 | 1224330 | دانلود |
