the clinical utility of molecular diagnostic testing for primary immune deficiency disorders a case based review分子诊断检测的临床效用主要免疫缺陷疾病基础复习.pdf

Ameratunga et al. Allergy, Asthma Clinical Immunology 2010, 6:12 /content/6/1/12 ALLERGY, ASTHMA CLINICAL IMMUNOLOGY R E V I E W Open Access Review The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review 1,2 2 3 2 Rohan Ameratunga* , See-Tarn Woon , Katherine Neas and Donald R Love 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 alpha/beta+ T (DNT) cells are useful markers for autoim- Primary immune deficiency disorders (PIDs) were first mune lymphoproliferative syndrome due to mutations in identified in 1952, with the description of agammaglobu- the fas gene [10]. Ultimately, however, identification of linemia by Bruton [1]. In the last few years, the