A team of scientists led by prof. Adrian Liston (VIB–KU Leuven) and prof. Isabelle Meyts (UZ Leuven – KU Leuven) were able to characterize a new genetic immunodeficiency resulting from a mutation in a gene named STAT2. This mutation causes patients to be extremely vulnerable to normally mild childhood illnesses such as rotavirus and enterovirus. Prof. Liston’s comprehensive analysis of the genetic defect allows clinicians to provide children with the proper therapies before illnesses prove fatal. The findings of the research have been published in the Journal of Allergy and Clinical Immunology.
A team of scientists led by prof. Adrian Liston (VIB–KU Leuven) and prof. Isabelle Meyts (UZ Leuven – KU Leuven) were able to characterize a new genetic immunodeficiency resulting from a mutation in a gene named STAT2. This mutation causes patients to be extremely vulnerable to normally mild childhood illnesses such as rotavirus and enterovirus. Prof. Liston’s comprehensive analysis of the genetic defect allows clinicians to provide children with the proper therapies before illnesses prove fatal. The findings of the research have been published in the Journal of Allergy and Clinical Immunology.
Recent advancements in technologies and tools now make it possible for researchers to identify extremely subtle defects of the human immune system. In the past, many patients with “hidden” immunodeficiencies, or defects that were not obvious from the outset, often become extremely ill or die before their genetic disorders are diagnosed. Prof. Liston and his lab were able to identify a gene mutation causing an immunodeficiency that can be fatal during childhood, enabling children to be diagnosed, monitored and preemptively treated for the disorder.
Immunodeficiency disorders are not rare
Ranging from disorders as severe as the well-known “bubble boy” to nearly impossible-to-detect ‘hidden’ defects, immunodeficiencies are more common than scientists previously thought. Immunologists and geneticists have only just begun to scratch the surface when it comes to defining these latter types of immune disorders, which can be specific enough to make sufferers highly susceptible to just one or two types of diseases.
Prof. Adrian Liston (VIB-KU Leuven): “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.”
Read more at VIB
Photo: Adrian Liston (VIB–KU Leuven) ©VIB-Ine Dehandschutter
