09/11/2017
A ground-breaking study by Dr. Craig Kinnear and colleagues- found a novel genetic mutation that causes Trichohepatoenteric Syndrome in 2 siblings of Somali descent. Unfortunately, these patients were diagnosed only after they passed away. This just highlights the importance of catching PIDs early on and providing hope for the family members!
Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair. It was first described in 1982 in two infants with intractable diarrhoea, liver cirrhosis…
