Application of Multiomics in Conundrum of Dysgammaglobulinemia

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.

Reference: Multiomics strategy in clinical immunology aiding unsolved antibody deficiencies (2018).

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