Principles of the diagnostics of inborn errors of immunity

Abstract

Inborn errors of immunity (IEI) are aheterogeneous group of nearly 500 diseases characterized by acongenital dysfunction of the immune system. The vast majority of IEIs are rare diseases but all IEIs share acumulative prevalence of 1:1200-1:2000. In addition to apathological susceptibility to infections, IEIs can also present with lymphoproliferative, autoimmune or autoinflammatory manifestations. There is often an overlap with classical rheumatic and inflammatory disease patterns. Therefore, abasic knowledge of the clinical presentation and the diagnostics of IEIs is also relevant for the practicing rheumatologist.