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my brother has Cf F508del/E822X is this considered a mild form since he only has pancreatic insufficency and no other problems?
Dear Questioner
F508DEL, E822X is an unusual combination. F508DEL is common, but E822X is an unusual mutation.
As the F508del mutation, the E822X mutation belongs to a group of mutations that lead to the "classical picture" of CF, with pancreatic insufficiency and chronic lung disease. However, it has to be stated, that the individual course of the disease (especially the course of the lung disease) cannot be predicted only according to the genetic findings, as many other factors (epigenetic and environmental factors) contribute here.
The severity of cystic fibrosis is determined by the extent of disease in the lungs as well as the pancreas. If he has pancreatic insufficiency and no lung problems that is excellent and he could be considered as having moderate lung disease.
Best wishes
Stuart Elborn, Belfast and Daniela d'Alquen

The answer is edited by: Prof Stuart Elborn