Disorders of the immune system [516 genes]

This general panel includes 516 genes that are associated with genetic immune system disorders. Defects in these genes can cause different immune diseases. Given the phenotypic overlap and complexity of these disorders, our focus encompasses two main groups. On the one hand, primary immunodeficiencies, both those related to disorders of innate immunity and adaptive immunity; and on the other hand, the immune dysregulation diseases, which include autoimmune and autoinflammatory disorders.

The identification of a causal genetic defect in the genes of this panel allows a precise molecular diagnosis to be made and adequate genetic counseling to be offered.

The yield of the genetic study, in general terms, applied to the immune system diseases diagnosis is around 20%, although there are differences depending on the group of pathologies studied and the cohorts reported. While immunodeficiencies of adaptive immunity show a positivity rate of around 25%, in autoinflammatory diseases a genetic cause is detected in approximately 10% of them.