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Researchers discover dozens of genetic defects important for immune defense — relevant for patients with rare diseases

Researchers discover dozens of genetic defects important for immune defense — relevant for patients with rare diseases

Researchers identify dozens of novel genetic defects that are important for immune function. The findings, published in the journal Nature Communications, could help to improve the diagnosis and treatment of patients with rare diseases.

The study was led by scientists at the University of Edinburgh in the United Kingdom. They used a new technique called whole exome sequencing to examine the genomes of more than 1,700 people from across the world.

The researchers found that defects in genes involved in the production of proteins known as antibodies were the most common type of immune deficiency. These proteins are important for protecting the body against infection.

The team also identified a number of other defects that are important for the development and function of other types of immune cells. These findings could help to improve the diagnosis and treatment of patients with rare diseases, such as primary immune deficiencies.

“This is the first time that the full spectrum of genetic defects that can cause primary immune deficiencies has been catalogued,” said study co-author Professor AndrewGenaim of the University of Edinburgh. “The wealth of information generated by this study will be a key resource for clinicians and researchers working to improve the lives of patients with these conditions.”

According to a new study, researchers have discovered dozens of genetic defects that are important for immune defense. The findings are relevant for patients with rare diseases, as many of these defects are associated with immunodeficiency.

The study, which was conducted by an international team of researchers, evaluated the genomes of more than 1,400 patients with rare diseases. The researchers identified hundreds of genes that are important for immunity, and found that defects in these genes can lead to immunodeficiency.

Many of the newly-identified genes are involved in the development and function of T cells, which are a type of white blood cell that is critical for immunity. The findings suggest that defects in these genes may be responsible for a number of immunodeficiency disorders.

The study provides important new insights into the genetics of immunity, and will help to improve the diagnosis and treatment of patients with rare diseases.

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