Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A Deficiency

Overview

Journal ACG Case Rep J

Specialty Gastroenterology

Date 2019 Oct 17

PMID 31616743

Citations 1

Authors

David T Broome

Andrew Young

Heather Torbic

Sudhir Krishnan

Ilyssa Gordon

Keith Lai

Maged Rizk

Florian Rieder

Affiliations

Soon will be listed here.

Abstract

Tetratricopeptide repeat domain-7A (TTC7A) deficiency causing combined immunodeficiency with inflammatory bowel disease (IBD) is rare. This case report alerts physicians to the possibility of TTC7A deficiency causing combined immunodeficiency with IBD and also highlights some of the current treatment options. We describe a 19-year-old patient with a compound heterozygote mutation causing combined immunodeficiency, IBD, and multiple intestinal atresia. Compound heterozygote mutations are known to cause combined immunodeficiency and IBD. Although rare, clinicians should be alerted to this variant and should understand the general approach to treatment.

Citing Articles

TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.

Huang Z, Zhi X, Geng Q, Yuan X, Zhao X, Qin Q Clin Rev Allergy Immunol. 2025; 68(1):7.

PMID: 39873864 PMC: 11775016. DOI: 10.1007/s12016-024-09017-y.

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Salter C, Cai Y, Lo B, Helman G, Taylor H, McCartney A Brain. 2021; 144(12):3597-3610.

PMID: 34415310 PMC: 8719846. DOI: 10.1093/brain/awab313.

References

Lemoine R, Pachlopnik-Schmid J, Farin H, Bigorgne A, Debre M, Sepulveda F . Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. J Allergy Clin Immunol. 2014; 134(6):1354-1364.e6. DOI: 10.1016/j.jaci.2014.07.019. View

Lien R, Lin Y, Lai M, Weng H, Wu R, Jaing T . Novel Mutations of the Gene and Phenotype/Genotype Comparison. Front Immunol. 2017; 8:1066. PMC: 5594067. DOI: 10.3389/fimmu.2017.01066. View

Notarangelo L . Multiple intestinal atresia with combined immune deficiency. Curr Opin Pediatr. 2014; 26(6):690-6. DOI: 10.1097/MOP.0000000000000159. View

Kammermeier J, Lucchini G, Pai S, Worth A, Rampling D, Amrolia P . Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up. Blood. 2016; 128(9):1306-8. DOI: 10.1182/blood-2016-01-696385. View

Chen R, Giliani S, Lanzi G, Mias G, Lonardi S, Dobbs K . Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol. 2013; 132(3):656-664.e17. PMC: 3759618. DOI: 10.1016/j.jaci.2013.06.013. View

Fernandez I, Patey N, Marchand V, Birlea M, Maranda B, Haddad E . Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. Medicine (Baltimore). 2014; 93(29):e327. PMC: 4602622. DOI: 10.1097/MD.0000000000000327. View

Neisch A, Fehon R . Ezrin, Radixin and Moesin: key regulators of membrane-cortex interactions and signaling. Curr Opin Cell Biol. 2011; 23(4):377-82. PMC: 3148288. DOI: 10.1016/j.ceb.2011.04.011. View

Samuels M, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N . Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet. 2013; 50(5):324-9. PMC: 3625823. DOI: 10.1136/jmedgenet-2012-101483. View

Grumach A, Leitao M, Arruk V, Kirschfink M, Condino-Neto A . Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family. Clin Exp Immunol. 2006; 143(2):297-304. PMC: 1809586. DOI: 10.1111/j.1365-2249.2005.02988.x. View

10.

Kammermeier J, Dziubak R, Pescarin M, Drury S, Godwin H, Reeve K . Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years. J Crohns Colitis. 2016; 11(1):60-69. PMC: 5885808. DOI: 10.1093/ecco-jcc/jjw118. View

11.

Avitzur Y, Guo C, Mastropaolo L, Bahrami E, Chen H, Zhao Z . Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. Gastroenterology. 2014; 146(4):1028-39. PMC: 4002656. DOI: 10.1053/j.gastro.2014.01.015. View

12.

Yang W, Lee P, Thong M, Ramanujam T, Shanmugam A, Koh M . Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. Clin Genet. 2014; 88(6):542-9. DOI: 10.1111/cge.12553. View

13.

Bigorgne A, Farin H, Lemoine R, Mahlaoui N, Lambert N, Gil M . TTC7A mutations disrupt intestinal epithelial apicobasal polarity. J Clin Invest. 2013; 124(1):328-37. PMC: 3871247. DOI: 10.1172/JCI71471. View