New Immunodeficiency Disease Identified

The investigation of an infant suffering from a combination of debilitating conditions including inflammatory bowel disease, cytomegalovirus (CMV) infection, lung disease, eczema, and food allergies, has brought to light a new immunodeficiency disease. Researchers at the University of Colorado Anschutz Medical Campus say the disease is caused by a genetic mutation and it presents rare insights into cell biology. The Journal of Experimental Medicine published their findings last week.

Despite numerous therapies, the child’s gut inflammation persisted when ingesting any food other than his prescribed infant formula. The patient’s sister also suffered from related health issues that pointed to an immune dysregulation syndrome. These conditions present immune systems with serious, unusual or recurring infections accompanied by inflammatory complications affecting the skin, circulating blood cells, lungs, and gastrointestinal tract. A poorly functioning immune system causes these complications and may also enhance the risk of cancers.

Researchers discovered that the reduced volume of T cells (immune cells) preventing autoimmunity in the children is a result of the first known human defect in the IL2RB gene. This mutation prevents the immune cells from properly developing and results in debilitating infection. Though this is the first time the defect has been identified, scientists believe others are likely to suffer from the condition.

A therapeutic approach to correct the sequence of a specific gene, gene therapy, may be employed to address the disease. A study published in the New England Journal of Medicine earlier this year showed potential in the treatment of SCID (severe combined immune deficiency) caused by IL2RG gene mutations. The identification of these genetic causes could pave the way for treatments that are personalized to meet the needs of each individual patient in the future.