참고문헌
- Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, et al. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 2013;50:324-9. https://doi.org/10.1136/jmedgenet-2012-101483
- Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology 2014;146:1028-39. https://doi.org/10.1053/j.gastro.2014.01.015
- Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol 2013;132:656-64. https://doi.org/10.1016/j.jaci.2013.06.013
- Fischer RT, Friend B, Talmon GA, Grant WJ, Quiros-Tejeira RE, Langnas AN, et al. Intestinal transplantation in children with multiple intestinal atresias and immunodeficiency. Pediatr Transplant 2014;18:190-6. https://doi.org/10.1111/petr.12211
- Ali YA, Rahman S, Bhat V, Al Thani S, Ismail A, Bassiouny I. Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA and HMIA with immunodeficiency over the last 50 years. BMJ Case Rep 2011;2011. doi: 10.1136/bcr.05.2010.3031.
- Moore SW, de Jongh G, Bouic P, Brown RA, Kirsten G. Immune deficiency in familial duodenal atresia. J Pediatr Surg 1996;31:1733-5. https://doi.org/10.1016/S0022-3468(96)90066-4
- Moreno LA, Gottrand F, Turck D, Manouvrier-Hanu S, Mazingue F, Morisot C, et al. Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am J Med Genet 1990;37:143-6. https://doi.org/10.1002/ajmg.1320370133
- Gilroy RK, Coccia PF, Talmadge JE, Hatcher LI, Pirruccello SJ, Shaw BW Jr, et al. Donor immune reconstitution after liver-small bowel transplantation for multiple intestinal atresia with immunodeficiency. Blood 2004;103:1171-4.
- Agarwal NS, Northrop L, Anyane-Yeboa K, Aggarwal VS, Nagy PL, Demirdag YY. Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. J Clin Immunol 2014;34:607-10. https://doi.org/10.1007/s10875-014-0067-7
피인용 문헌
- Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017 vol.9, pp.None, 2018, https://doi.org/10.3389/fimmu.2018.01423
- Congenital intestinal atresias with multiple episodes of sepsis : A case report and review of literature vol.97, pp.23, 2018, https://doi.org/10.1097/md.0000000000010939
- TTC7A: Steward of Intestinal Health vol.7, pp.3, 2019, https://doi.org/10.1016/j.jcmgh.2018.12.001
- The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease vol.10, pp.1, 2014, https://doi.org/10.1038/s41598-020-73482-6