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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 6/2014

01-08-2014 | Astute Clinician Report

Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

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

Published in: Journal of Clinical Immunology | Issue 6/2014

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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.
Literature
1.
Ali YA, Rahman S, Bhat V, Thani SA, Ismail A, Bassiouny I. Hereditary multiple intestinal atresia with severe combined immunodeficiency: 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 Reports 2011: 1–7
2.
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.PubMedCentralPubMedCrossRef
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Chen R, Giliani S, Lanzi G, George MI, Lonardi S, Dobbs BS, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol. 2013;132(3):656–64.PubMedCentralPubMedCrossRef
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Allan RK, Ratajczak T. Versatile TPR domains accommodate different modes of target protein recognition and function. Cell Stress Chaperones. 2011;16(4):353–67.PubMedCentralPubMedCrossRef
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Bigorgne A, Farin H, Lemoine R, Mahlaoui N, Lambert N, Gil M, et al. TTC7A mutations disrupt intestinal epithelial apicobasal polarity. J Clin Investig. 2014;124(1):328–37.PubMedCentralPubMedCrossRef
6.
Avitzur Y, Guo C, Mastropaolo L, Bahrami E, Chen H, Zhao Z, et al. Mutations in Tetratricopeptide Repeat Domain 7A Results in a Severe Form of Very Early Onset Inflammatory Bowel Disease. Gastroenterology 2014;January 11 (Epub ahead of print)
Metadata
Title
Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency
Authors
Niti Sardana Agarwal
Lesley Northrop
Kwame Anyane-Yeboa
Vimla S. Aggarwal
Peter L. Nagy
Yesim Yilmaz Demirdag
Publication date
01-08-2014
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 6/2014
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-014-0067-7

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