Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias
Background Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a
rare hereditary disease characterized by intestinal obstructions and profound immune
defects. Objective We sought to determine the underlying genetic causes of CID-MIA by
analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5
unrelated families. Methods We performed whole-exome sequencing on 5 patients with CID-
MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA …
rare hereditary disease characterized by intestinal obstructions and profound immune
defects. Objective We sought to determine the underlying genetic causes of CID-MIA by
analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5
unrelated families. Methods We performed whole-exome sequencing on 5 patients with CID-
MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA …
