Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects-Reference-Cited by-同舟云学术

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects

Published:2015-03-05 Issue:10 Volume:125 Page:1674-1676
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Woutsas Stavroula¹,Aytekin Caner²,Salzer Elisabeth¹,Conde Cecilia Domínguez¹,Apaydin Sema³,Pichler Herbert⁴,Memaran-Dadgar Nima⁵,Hosnut Ferda Ozbay⁶,Förster-Waldl Elisabeth⁷,Matthes Susanne⁸,Huber Wolf-Dietrich⁵,Lion Thomas⁷,Holter Wolfgang⁸,Bilic Ivan¹,Boztug Kaan¹⁵

Affiliation:

1. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria

2. Department of Pediatric Immunology, Dr Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey

3. Department of Pathology, Dr Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey

4. Department of Paediatrics, St. Anna Kinderspital and Children’s Cancer Research Institute, Medical University of Vienna, Vienna, Austria

5. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria

6. Department of Pediatric Gastroenterology, Dr Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey

7. Division of Molecular Microbiology, Children’s Cancer Research Institute, Vienna, Austria

8. Department of Pediatrics, St. Anna Kinderspital and Children’s Cancer Research Institute, Medical University of Vienna, Vienna, Austria

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/125/10/1674/1383080/1674.pdf

Reference11 articles.

1. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.;Avitzur;Gastroenterology,2014

2. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.;Samuels;J Med Genet,2013

3. TTC7A mutations disrupt intestinal epithelial apicobasal polarity.;Bigorgne;J Clin Invest,2014

4. PI3 kinase signals BCR-dependent mature B cell survival.;Srinivasan;Cell,2009

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2. Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A);Intractable & Rare Diseases Research;2024-05-31

3. Meconium peritonitis in multiple intestinal atresia with combined immune deficiency caused by a TTC7A mutation: A case report;SAGE Open Medical Case Reports;2024-01

4. Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants;Frontiers in Genetics;2022-06-16

5. Prenatal imaging and whole-exome sequencing identify novel tetratricopeptide repeat domain 7A mutation in foetus with gastrointestinal atresia: a case report;Egyptian Journal of Radiology and Nuclear Medicine;2022-06-07