Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects
نویسندگان
چکیده
منابع مشابه
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-ex...
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متن کاملMultiple Intestinal Atresia With Combined Immune Deficiency Related to TTC7A Defect Is a Multiorgan Pathology
Hereditary multiple intestinal atresia (HMIA) is a rare cause of intestinal obstruction in humans associated with a profound combined immune deficiency. Deleterious mutations of the tetratricopeptide repeat domain-7A (TTC7A) gene lead to HMIA, although the mechanism(s) causing the disease in TTC7A deficiency has (have) not yet been clearly identified. To evaluate the consequences of TTC7A defic...
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ژورنال
عنوان ژورنال: Blood
سال: 2015
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2014-08-595397