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Literature DB >> 24931897

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

Niti Sardana Agarwal¹, Lesley Northrop, Kwame Anyane-Yeboa, Vimla S Aggarwal, Peter L Nagy, Yesim Yilmaz Demirdag.

Abstract

In the past year, two centers reported autosomal recessive mutations in tetratricopeptide repeat domain 7A (TTC7A) gene in patients with multiple intestinal atresia and immunodeficiency. Here, we present clinical progress of an infant with multiple intestinal atresia and combined immunodeficiency who carries novel compound heterozygote mutations in TTC7A gene.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2014 PMID： 24931897 DOI： 10.1007/s10875-014-0067-7

Source DB: PubMed Journal: J Clin Immunol ISSN： 0271-9142 Impact factor: 8.317

5 in total

Review 1. 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.

Authors: Yasser Ali Hussein Ali; Sajjad Rahman; Venkatraman Bhat; Sheikha Al Thani; Adel Ismail; Ibrahim Bassiouny
Journal: BMJ Case Rep Date: 2011-02-09

Review 2. Versatile TPR domains accommodate different modes of target protein recognition and function.

Authors: Rudi Kenneth Allan; Thomas Ratajczak
Journal: Cell Stress Chaperones Date: 2010-12-09 Impact factor: 3.667

3. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

Authors: Rui Chen; Silvia Giliani; Gaetana Lanzi; George I Mias; Silvia Lonardi; Kerry Dobbs; John Manis; Hogune Im; Jennifer E Gallagher; Douglas H Phanstiel; Ghia Euskirchen; Philippe Lacroute; Keith Bettinger; Daniele Moratto; Katja Weinacht; Davide Montin; Eleonora Gallo; Giovanna Mangili; Fulvio Porta; Lucia D Notarangelo; Stefania Pedretti; Waleed Al-Herz; Wasmi Alfahdli; Anne Marie Comeau; Russell S Traister; Sung-Yun Pai; Graziella Carella; Fabio Facchetti; Kari C Nadeau; Michael Snyder; Luigi D Notarangelo
Journal: J Allergy Clin Immunol Date: 2013-07-04 Impact factor: 14.290

4. TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

Authors: Amélie E Bigorgne; Henner F Farin; Roxane Lemoine; Nizar Mahlaoui; Nathalie Lambert; Marine Gil; Ansgar Schulz; Pierre Philippet; Patrick Schlesser; Tore G Abrahamsen; Knut Oymar; E Graham Davies; Christian Lycke Ellingsen; Emmanuelle Leteurtre; Brigitte Moreau-Massart; Dominique Berrebi; Christine Bole-Feysot; Patrick Nischke; Nicole Brousse; Alain Fischer; Hans Clevers; Geneviève de Saint Basile
Journal: J Clin Invest Date: 2014-01 Impact factor: 14.808

5. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

Authors: Mark E Samuels; Jacek Majewski; Najmeh Alirezaie; Isabel Fernandez; Ferran Casals; Natalie Patey; Hélène Decaluwe; Isabelle Gosselin; Elie Haddad; Alan Hodgkinson; Youssef Idaghdour; Valerie Marchand; Jacques L Michaud; Marc-André Rodrigue; Sylvie Desjardins; Stéphane Dubois; Francoise Le Deist; Philip Awadalla; Vincent Raymond; Bruno Maranda
Journal: J Med Genet Date: 2013-02-19 Impact factor: 6.318

5 in total

14 in total

Review 1. History and current status of newborn screening for severe combined immunodeficiency.

Authors: Antonia Kwan; Jennifer M Puck
Journal: Semin Perinatol Date: 2015-04-30 Impact factor: 3.300

2. Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency.

Authors: Jessica R Saunders; Anna Lehman; Stuart E Turvey; Jie Pan; Evica Rajcan-Separovic; Aleixo M Muise; Jonathan W Bush
Journal: J Clin Immunol Date: 2019-07-24 Impact factor: 8.317

3. Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.

Authors: Dylan Lawless; Anoop Mistry; Philip M Wood; Jens Stahlschmidt; Gururaj Arumugakani; Mark Hull; David Parry; Rashida Anwar; Clive Carter; Sinisa Savic
Journal: J Clin Immunol Date: 2017-08-14 Impact factor: 8.317

4. Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.

Authors: Katelyn Dannheim; Jodie Ouahed; Michael Field; Scott Snapper; Bram P Raphael; Sarah C Glover; Phyllis R Bishop; Natalie Bhesania; Daniel Kamin; Jay Thiagarajah; Jeffrey D Goldsmith
Journal: Am J Surg Pathol Date: 2022-01-05 Impact factor: 6.298

Review 5. The Contributions of Human Mini-Intestines to the Study of Intestinal Physiology and Pathophysiology.

Authors: Huimin Yu; Nesrin M Hasan; Julie G In; Mary K Estes; Olga Kovbasnjuk; Nicholas C Zachos; Mark Donowitz
Journal: Annu Rev Physiol Date: 2017-02-10 Impact factor: 22.163

6. The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.

Authors: Riccardo Guanà; Salvatore Garofano; Elisabetta Teruzzi; Simona Vinardi; Giulia Carbonaro; Alessia Cerrina; Isabella Morra; Davide Montin; Alessandro Mussa; Jürgen Schleef
Journal: Pediatr Gastroenterol Hepatol Nutr Date: 2014-12-31

7. Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.

Authors: Isabel Fernandez; Natalie Patey; Valérie Marchand; Mirela Birlea; Bruno Maranda; Elie Haddad; Hélène Decaluwe; Françoise Le Deist
Journal: Medicine (Baltimore) Date: 2014-12 Impact factor: 1.889