Gergana Georgieva

Genetic testing for inborn errors of immunity (IEI) in the Netherlands is performed at most of the University Medical Centers. The most commonly used techniques include whole-exome sequencing (WES) and (short- and long-read) whole-genome sequencing (WGS). Sanger sequencing is used in some centers for the targeted analysis of familial genetic variants or for the analyses of a single gene instead of a panel of genes.

Genetic testing for inborn errors of immunity (IEI) in England is provided by the NHS England Genomics with analysis undertaken by genetics laboratories in London (Great Ormond Street Hospital) and Manchester (Manchester University Hospital). This testing aims to diagnose and manage immune deficiency and dysregulation disorders, which can significantly improve the life expectancy and health-related quality of life for affected individuals.

Inborn errors of immunity (IEI) are expected to be more prevalent in Iran than in many other regions, largely due to the high rate of consanguinity. This unique genetic background has enabled the discovery of numerous novels and complex IEI-associated genes, contributing to the global understanding of immune function. Despite these advances, many affected individuals remain undiagnosed, underscoring the gap between genetic potential and clinical recognition.