Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous group of disorders. The clinical spectrum could range from acutely life-threatening conditions to milder disorders which can present with frequent, severe, and/or unusual infections; with autoimmune, autoinflammatory, or lymphoproliferative phenomena; with or without any dysmorphic features. Often , underdiagnosis and delay in diagnosis contributes to high morbidity and mortality. Early identification of the disease mechanism might enable early protective interventions and potentially targeted or curative therapy.
In cases where initial laboratory testing does not help in diagnosis, there are now newer sophisticated techniques such as Next Generation Sequencing’ (NGS) that can identify the underlying genetic causes. Using NGS in an increasing number of immunodeficiency disorders, the precise mutation in the relevant gene can now be identified and this not only helps to determine the best treatment but also means accurate counselling can be offered to the family, and prenatal tests can be offered in next pregnancy, if requested. Join us for this Webinar where we discuss how NGS can help you in accurate diagnosis of PIDD with technical details and case studies.