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23 January 2017

Belgian researchers have found a new genetic immunodeficiency, explaining why some otherwise healthy children succumb to some kinds of infection.

The researchers say the mutation makes patients "extremely vulnerable" to infections such as rotavirus and enterovirus, which would normally cause mild illnesses.

The mutation has been found in a gene named STAT2, the researchers from the Flanders Interuniversity Institute for Biotechnology report in the Journal of Allergy and Clinical Immunonology.

It has been found in two children, one of whom died from an infection.

Researcher Professor Adrian Liston said: “I wouldn’t be surprised if, when we finally do complete the identification of all genetic immunodeficiencies, we discover that up to 1 in 100 children are affected. The ‘hidden’ ones are especially insidious, because they do not present as obviously as other genetic immune disorders.

"In our study, one of the patients did unfortunately die before a diagnosis could be made. The other patient is alive and well, and now that she has been diagnosed, she is being carefully watched.

"We can do something about most immunodeficiencies – if only we can identify them.”

Professor Isabelle Meyts, who was the patients' clinician, said: "When an otherwise healthy child experiences extremely severe infection with a common pathogen, like influenza or the chickenpox virus, or whenever a child is particularly vulnerable to infection with a single pathogen, an underlying defect in the immune system is likely.

"Likewise, a family history of a child succumbing to infection should alert the family and the clinician. Identifying the causative gene defect allows for genetic counseling of the family and for preventive measures to be taken."

Source: Moens et al. A novel kindred with inherited STAT2 deficiency and severe viral illness Journal of Allergy and Clinical Immunology January 2017; doi: 10.1016/j.jaci.2016.10.033




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