Photo Credit: jarun011
The following is a summary of “Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for the diagnosis of inborn errors of immunity (IEI),” published in the November 2024 issue of Allergy and Immunology by Giardino et al.
Inborn errors of immunity (IEIs) are rare congenital disorders characterized by immune system dysregulation and infection susceptibility. The overlap of clinical features complicates diagnosis, but high throughput sequencing (HTS) can provide timely genetic definitions. Guidelines by the American College of Medical Genetics and Genomics (ACMG) and the European Society of Human Genetics (ESHG) do not cover specificities for IEIs.
Researchers conducted a retrospective study to define the best approach to genetic testing for IEIs.
They formed a panel of experts from the Italian Primary Immunodeficiency Network (IPINet) to evaluate a list of statements using the Delphi method.
The results showed that genetic testing for IEIs should be offered to selected patients with warning signs. The experts emphasized the importance of thorough phenotyping and functional tests for a conclusive diagnosis. They recommended developing educational programs for healthcare professionals and the public to raise awareness and reduce diagnostic delays. Ethical considerations should be addressed regarding the diagnostic advantages of genetic tests.
They concluded that adherence to guidelines for genetic testing in IEIs helped limit inappropriate use and reduced the risk of misdiagnosis. This approach also alleviated concerns over inconclusive genetic results.
Source: jacionline.org/article/S0091-6749(24)01282-X/abstract
