19 Jan Genetic Cause of Subtle Immune Deficiency Identified
MedicalResearch.com Interview with:
Prof. Adrian Liston
MedicalResearch.com: What is the background for this study?
Response: With vaccinations, sanitation, antibiotics and general improvements in living standards, infectious disease is no longer a major killer of children. Death or hospitalisation of children from infection is rare in countries with modern health care systems. Those rare events were once thought to be chance outcomes on the roulette of bad luck, but increasingly we are recognising that genetic mutations underlie severe pediatric infections.
In our study we are seeking to identify the mutations and immunological changes that occur in children, causing them to have severe reactions to infectious disease.
MedicalResearch.com: What are the main findings?
Response: We identified a new mutation that caused immune deficiency in children. The family we studied at first looked like they had normal immune systems, but upon detailed research they were missing responses to one of the hundreds of different immune molecules (called type 1 interferon). Despite the immune system having all of these different immune molecules, defects in this one particular pathway meant that the children in this family had extremely severe reactions to common childhood diseases, such as rotavirus. The reaction in the first child was fatal, however understanding that the second child had a genetic immune deficiency has allowed improved care and correct treatment.
MedicalResearch.com: What should readers take away from your report?
Response: Immune defects can be extremely subtle. The problem that these children had would not be picked up in any diagnostic assay that is run, even in a specialist hospital. Doctors and parents need to be on the look out for the warning signs of an immune deficiency – especially severe reactions to common illnesses and a family history of immune deficiency. Some immune deficiencies even only manifest for a single infectious disease, with every other infection being normal. Without highly detailed immune and genetic analysis it is extremely difficult to rule out immune deficiency.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Response: Every severe infection in a child should be treated as a potential immune deficiency until proven otherwise. There are no simple tests right now, so research immunologists and geneticists should be involved in assessing every child who develops a life-threatening infection.
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Leen Moens, Lien Van Eyck, Dirk Jochmans, Tania Mitera, Glynis Frans, Xavier Bossuyt, Patrick Matthys, Johan Neyts, Michael Ciancanelli, Shen-Ying Zhang, Rik Gijsbers, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Isabelle Meyts, Adrian Liston. A novel kindred with inherited STAT2 deficiency and severe viral illness. Journal of Allergy and Clinical Immunology, 2017; DOI: 10.1016/j.jaci.2016.10.033
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