Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học General Psychiatry cung cấp cho các bạn kiến thức về ngành y đề tài: The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review. | Ameratunga et al. Allergy Asthma Clinical Immunology 2010 6 12 http content 6 1 12 ALLERGY ASTHMA CLINICAL IMMUNOLOGY REVIEW Open Access The clinical utility of molecular diagnostic testing for primary immune deficiency disorders a case based review Rohan Ameratunga 1 2 See-Tarn Woon2 Katherine Neas3 and Donald R Love2 Abstract Primary immune deficiency disorders PIDs are a group of diseases associated with a genetic predisposition to recurrent infections malignancy autoimmunity and allergy. The molecular basis of many of these disorders has been identified in the last two decades. Most are inherited as single gene defects. Identifying the underlying genetic defect plays a critical role in patient management including diagnosis family studies prognostic information prenatal diagnosis and is useful in defining new diseases. In this review we outline the clinical utility of molecular testing for these disorders using clinical cases referred to Auckland Hospital. It is written from the perspective of a laboratory offering a wide range of tests for a small developed country. Introduction Primary immune deficiency disorders PIDs were first identified in 1952 with the description of agammaglobulinemia by Bruton 1 . In the last few years the genetic basis of many PID disorders has been identified 2 3 . Most are inherited as single gene defects. Several are X-linked which accounts for the preponderance of PIDs amongst males. While rare most are amenable to specific treatment. For example successful haematopoeitic stem cell transplantation may be curative in patients with severe combined immune deficiency syndrome SCID . In other PIDs delayed diagnosis may be associated with disabling complications such as bronchiectasis 4 . Clinical history and physical examination can be helpful in identifying PIDs and the need for further investigation. Once these patients are referred to an immunologist other tests including vaccine responses can be undertaken 5 6 .
