Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for the diagnosis of inborn errors of immunity (IEI)

Inborn errors of immunity (IEIs) are greater than 500 totally different uncommon congenital problems of the immune system characterised by susceptibility to infections and immune dysregulation. The numerous overlap of the scientific options among the many totally different varieties might result in diagnostic delay. Excessive throughput sequencing methods might enable a well timed genetic definition. Tips for the use and the interpretation of genetic testing produced by the American School of Medical Genetics and Genomics (ACMG) and the European Society of Human Genetics (ESHG) don’t cowl specificities for the applying to IEIs.

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