Photo from archive.org
TTC7A deficiency typically causes severe gastrointestinal manifestations such as multiple intestinal atresia or early-onset inflammatory bowel disease. In some cases, this is associated with severe combined immunodeficiency. Partial loss-of-function mutations… Click to show full abstract
TTC7A deficiency typically causes severe gastrointestinal manifestations such as multiple intestinal atresia or early-onset inflammatory bowel disease. In some cases, this is associated with severe combined immunodeficiency. Partial loss-of-function mutations appear to be associated with a milder phenotype resulting in common variable immunodeficiency-like condition with enteropathy.
Keywords:
phenotype;
immunodeficiency;
variable immunodeficiency;
common variable;
bialellic mutations;
immunodeficiency like
Journal Title: Journal of Clinical Immunology
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Journal of Clinical Immunology
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!