tailieunhanh - Báo cáo y học: "Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies. | Abraham Clinical and Molecular Allergy 2011 9 6 http content 9 1 6 REVIEW CMA CLINICAL AND MOLECULAR ALLERGY Open Access Relevance of laboratory testing for the diagnosis of primary immunodeficiencies a review of case-based examples of selected immunodeficiencies Roshini S Abraham Abstract The field of primary immunodeficiencies PIDs is one of several in the area of clinical immunology that has not been static but rather has shown exponential growth due to enhanced physician scientist and patient education and awareness leading to identification of new diseases new molecular diagnoses of existing clinical phenotypes broadening of the spectrum of clinical and phenotypic presentations associated with a single or related gene defects increased bioinformatics resources and utilization of advanced diagnostic technology and methodology for disease diagnosis and management resulting in improved outcomes and survival. There are currently over 200 PIDs with at least 170 associated genetic defects identified with several of these being reported in recent years. The enormous clinical and immunological heterogeneity in the PIDs makes diagnosis challenging but there is no doubt that early and accurate diagnosis facilitates prompt intervention leading to decreased morbidity and mortality. Diagnosis of PIDs often requires correlation of data obtained from clinical and radiological findings with laboratory immunological analyses and genetic testing. The field of laboratory diagnostic immunology is also rapidly burgeoning both in terms of novel technologies and applications and knowledge of human immunology. Over the years the classification of PIDs has been primarily based on the immunological defect s immunophenotype with the relatively recent addition of genotype though there are clinical classifications as well. There can be substantial overlap in terms of the broad immunophenotype and clinical features between PIDs and therefore it is relevant