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

• Inborn errors of immunity (IEI) constitute a heterogeneous group of mainly monogenic primary immune disorders. • The human gene connectome analysis shows that around 3110 genes may be potentially included among IEI-causing genes. • The correct molecular diagnosis is crucial for the classification and subsequent therapeutic management of patients with IEI. • NGS has facilitated genetic examinations of inherited disorders, thus allowing a suitable molecular diagnosis in individuals with IEIs. 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. [ABSTRACT FROM AUTHOR]