ID
45409
Description
Principal Investigator: Luigi D. Notarangelo, MD, Division of Immunology, Boston Children's Hospital; Harvard Stem Cell Institute, Harvard Medical School, Boston, MA, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000641 Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA) is a rare genetic disorder with the cause previously unknown. Symptoms of CID-MIA include atresias in the small and/or large intestine, as well as immunodeficiency. In this study, we sequenced the whole exome of 5 unrelated CID-MIA patients as well as their healthy family members, and identified deleterious homozygous or compound heterozygous mutations in the gene *TTC7A* in all the 5 patients, as well as in 3 additional patients with Sanger sequencing. Our findings strongly indicate *TTC7A* dysfunction to be the cause for CID-MIA.
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Versions (1)
- 11/19/22 11/19/22 - Simon Heim
Copyright Holder
Luigi D. Notarangelo, MD, Division of Immunology, Boston Children's Hospital; Harvard Stem Cell Institute, Harvard Medical School, Boston, MA, USA
Uploaded on
November 19, 2022
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License
Creative Commons BY 4.0
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dbGaP phs000641 TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresia
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