Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
Background Inflammatory bowel disease (IBD) is one of the most common chronic
gastrointestinal diseases, but the underlying molecular mechanisms remain largely
unknown. Studies of monogenic diseases can provide insight into the pathogenesis of IBD.
Objective We thought to determine the underlying molecular causes of IBD occurring in 2
unrelated families in association with an immune deficiency. Methods We performed genetic
linkage analysis and candidate gene sequencing on 13 patients from a large …
gastrointestinal diseases, but the underlying molecular mechanisms remain largely
unknown. Studies of monogenic diseases can provide insight into the pathogenesis of IBD.
Objective We thought to determine the underlying molecular causes of IBD occurring in 2
unrelated families in association with an immune deficiency. Methods We performed genetic
linkage analysis and candidate gene sequencing on 13 patients from a large …