Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy
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DOI: 10.1007/s10875-017-0427-1
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… read more here.
Keywords: phenotype; immunodeficiency; variable immunodeficiency; common variable ... See more keywords