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RCPA Professor Stuart Tangye, a speaker at the Royal College of Pathologists of Australasia’s (RCPA) annual conference, explains how next generation sequencing (NGS) for the diagnosis of primary immunodeficiencies (PID) is providing increased opportunities for precision or personalised medicine. This comes following the recent discovery of many new gene defects, with implications for many patients.  Primary immunodeficiency disorders are a set of syndromes that arise from genetic defects that affect the development of function of the immune system. Most are diagnosed in young children, and patients are generally characterised by increased susceptibility to infections. However, affected patients can also be susceptible to developing other clinical features including autoimmunity, allergy and even cancer. 

Stuart tangyeRoyal college of pathologists australasiaProfessor stuart tangyeRoyal collegePathology updateஅரச கல்லூரி ஆஃப் நோயியல் நிபுணர்கள் ஆஸ்திரேலியாஅரச கல்லூரிநோயியல் புதுப்பிப்பு