Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing

Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and immunological phenotype, therefore a correct molecular diagnosis is crucial for the classification and subsequent therapeutic management. On the other hand, IEI are a group of rare congenital diseases with highly diverse features and, in most cases, an as yet unknown genetic etiology. Next generation sequencing has facilitated genetic examinations of rare inherited disorders during the recent years, thus allowing a suitable molecular diagnosis in the IEI patients. This review aimed to investigate the current findings about these techniques in the field of IEI, suggesting an efficient stepwise approach to molecular diagnosis of inborn errors of immunity.

Automated summary

Patients with inborn errors of immunity (IEI) exhibit diverse clinical and immunological phenotypes, emphasizing the importance of accurate molecular diagnosis. Next generation sequencing has facilitated genetic examinations for rare inherited disorders, allowing a suitable molecular diagnosis for IEI patients. An efficient stepwise approach to molecular diagnosis of inborn errors of immunity has been suggested in light of current findings in the field.