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Genetic test can diagnose certain immune system disorders

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DNA samples were tested and processed with a next-generation sequencing panel

Researchers have used next-generation sequencing technology to test a DNA panel of 130 different immune system genes from 22 study participants.

They found that many patients had inherited a genetic defect that caused a disorder in their immune system.

These findings may help create better treatment options and earlier diagnosis in family members who may have inherited the same genetic abnormality.

The new study was published by Elsevier in The Journal of Molecular Diagnostics.

Life-threatening

Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections.

There are more than 450 known PIDs, but timely and accurate diagnoses remains a challenge.

“Genetic testing was costly to perform and was mostly targeted to DNA sequencing of a single or very small number of genes,” said lead investigator Lloyd J D’Orsogna.

That means that diagnosis may not be accessible for many patients with PIDs.

Dr D’Orsogna works at the School of Medicine, University of Western Australia, and Department of Clinical Immunology at PathWest Laboratory Medicine, Fiona Stanley Hospital, Perth.

“Recent advances in genetic technology allow affordable testing of multiple genes from the same individual. We can therefore identify a specific gene that may lead to frequent infections in patients.

“An earlier and more accurate diagnosis may improve the patient outcome and prevent complications.”

The study

Scientists recruited 22 unrelated patients with common variable immunodeficiency (CVID), a common type of PID, and a previously unknown genetic diagnosis, for the study.

DNA samples were tested and processed with a next-generation sequencing panel containing 120 different immune genes.

The research team identified 130 genetic variants for analysis.

Through literature review, functional assays and family studies, they assessed the pathogenicity of the novel variants not previously associated with CVID.

The investigators identified likely pathogenetic variants in six of the 22 patients (27 per cent). In an additional four patients, they identified variants of unknown significance (VOUS).

VOUS are genetic variants whose clinical significance is not clear at this stage but might cause the disease.

Overall, they were able to identify genetic abnormalities in nearly half of the patients. Conventional Sanger sequencing confirmed all detected variants.

Notable findings

Among the notable findings of the study was a patient with a novel variant in the AICDA gene that doctors had not previously detected.

Her son also had a confirmed diagnosis of CVID and has also inherited the same mutation.

Another patient had a novel pathogenic variant of the ICOS gene, which is part of the immunodeficiency and immune response.

In another CVID patient, researchers detected a genetic variant in the BAFF-R gene, which enhances B cell survival; however, flow cytometry analysis confirmed it was pathogenic.

Such genetic diagnoses can inform decisions on targeted therapeutic options for patients.

They can also provide earlier intervention for family members of patients with confirmed CVID.

For example, the team referred the son of the patient with the novel AICDA variant for genetic counselling before starting a family.

“I hope the new age of genetic medicine enables earlier and more accurate diagnosis, likely leading to better treatment and outcomes for all,” said Dr D’Orsogna.

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