Despite the advanced studies on pathogenesis of human immunodeficiency virus (HIV) infection, we remain remarkably ignorant about the second most common immune system disorder, dysgammaglobulinemia. On the other hand, a correct molecular diagnosis in these patients affected by primary immunodeficiencies is crucial for subsequent therapeutic management.
While conventional model focused on clinical phenotyping and immunoglobulin profile, we have provided a comprehensive guideline to integrate multiomics strategy in process of molecular diagnosis, which has improved diagnostic yield by more than 60% in unsolved patients. This method enables novel gene discoveries underlying impaired antibody production and establishes state-of-the- art experimental and computational approaches to elucidate the humoral immune response.
The current proposed stepwise workup followed by modified genomic and multiomics analyses changed medical management in 50% of these patients with highly diverse clinical/immunologic features. These medical implications include targeted medication, secondary prevention, prognosis estimation and prenatal diagnosis.