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.
Lien
Mots-clés
Versions (1)
- 19/11/22 19/11/22 - Simon Heim
Détendeur de droits
Luigi D. Notarangelo, MD, Division of Immunology, Boston Children's Hospital; Harvard Stem Cell Institute, Harvard Medical School, Boston, MA, USA
Téléchargé le
19 novembre 2022
DOI
Pour une demande vous connecter.
Licence
Creative Commons BY 4.0
Modèle Commentaires :
Ici, vous pouvez faire des commentaires sur le modèle. À partir des bulles de texte, vous pouvez laisser des commentaires spécifiques sur les groupes Item et les Item.
Groupe Item commentaires pour :
Item commentaires pour :
Vous devez être connecté pour pouvoir télécharger des formulaires. Veuillez vous connecter ou s’inscrire gratuitement.
dbGaP phs000641 TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresia
Similar models
Eligibility Criteria
C0680251 (UMLS CUI [1,2])
C0702111 (UMLS CUI [1,2])
C2711630 (UMLS CUI [1,3])
C0220744 (UMLS CUI [1,4])