Literature DB >> 29921470

TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review.

J Fayard1, S Collardeau2, Y Bertrand3, M-P Cordier4, C Malcus5, R Dubois6, P-Y Mure6, G de Saint Basile7, T Louazon1, B Rohmer1, A Lachaux8, R Duclaux1, N Peretti9.   

Abstract

TTC7A mutations cause multiple neonatal intestinal atresias with early inflammatory bowel disease and severe combined immunodeficiency. There are no treatment protocols for this rare disease. Two new cases are described for which radical early treatment measures - total enterectomy, home parenteral nutrition, immunoglobulin therapy and intravenous antibiotic prophylaxis - have allowed both patients to develop optimally.
Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Graft-versus-host disease (GVHD); Inflammatory bowel disease (IBD); Intestinal atresias; Parenteral nutrition; Severe combined immunodeficiency (SCID); Tetratricopeptide repeat domain 7A (TTC7A)

Year:  2018        PMID： 29921470     DOI： 10.1016/j.arcped.2018.05.006

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN： 0929-693X            Impact factor:   1.180


  6 in total

1.  Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants.

Authors:  Yun-E Chen; Jingfang Chen; Wenxing Guo; Yanhong Zhang; Jialing Li; Hui Xie; Tong Shen; Yunsheng Ge; Yanru Huang; Wenying Zheng; Mei Lu
Journal:  Front Genet       Date:  2022-06-16       Impact factor: 4.772

2.  Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Authors:  Claire G Salter; Yiying Cai; Bernice Lo; Guy Helman; Henry Taylor; Amber McCartney; Joseph S Leslie; Andrea Accogli; Federico Zara; Monica Traverso; James Fasham; Joshua A Lees; Matteo P Ferla; Barry A Chioza; Olivia Wenger; Ethan Scott; Harold E Cross; Joanna Crawford; Ilka Warshawsky; Matthew Keisling; Dimitris Agamanolis; Catherine Ward Melver; Helen Cox; Mamoun Elawad; Tamas Marton; Matthew N Wakeling; Dirk Holzinger; Stephan Tippelt; Martin Munteanu; Deyana Valcheva; Christin Deal; Sara Van Meerbeke; Catherine Walsh Vockley; Manish J Butte; Utkucan Acar; Marjo S van der Knaap; G Christoph Korenke; Urania Kotzaeridou; Tamas Balla; Cas Simons; Holm H Uhlig; Andrew H Crosby; Pietro De Camilli; Nicole I Wolf; Emma L Baple
Journal:  Brain       Date:  2021-12-31       Impact factor: 15.255

Review 3.  TTC7A: Steward of Intestinal Health.

Authors:  Sasha Jardine; Neel Dhingani; Aleixo M Muise
Journal:  Cell Mol Gastroenterol Hepatol       Date:  2018-12-13

Review 4.  Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes.

Authors:  Antonella Diamanti; Giacomo Calvitti; Diego Martinelli; Emma Santariga; Teresa Capriati; Giulia Bolasco; Lorenzo Iughetti; Arturo Pujia; Daniela Knafelz; Giuseppe Maggiore
Journal:  Nutrients       Date:  2021-02-27       Impact factor: 5.717

5.  Refractory pruritus responds to dupilumab in a patient with TTC7A mutation.

Authors:  Yassaman Alipour Tehrany; Louis Marois; Caroline Colmant; Valérie Marchand; Victor Kokta; Jérôme Coulombe; Danielle Marcoux; Elie Haddad; Catherine McCuaig
Journal:  JAAD Case Rep       Date:  2020-12-10

6.  A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.

Authors:  Wenjun Mou; Shen Yang; Ruolan Guo; Libing Fu; Li Zhang; Weihong Guo; Jingbin Du; Jianxin He; Qinghua Ren; Chanjuan Hao; Jingang Gui; Jinshi Huang
Journal:  Front Immunol       Date:  2021-12-15       Impact factor: 7.561
  6 in total

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