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Article

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

Journal of clinical immunology - 1 Oct 2017

Lawless Dylan, Mistry Anoop, Wood Philip M, Stahlschmidt Jens, Arumugakani Gururaj, Hull Mark, Parry David, Anwar Rashida, Carter Clive, Savic Sinisa

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PMID: 28808844
DOI: 10.1007/s10875-017-0427-1

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Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.PMID 28808844Read ↗

Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype ComparisonSemantic proximity Read ↗

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined ImmunodeficiencySemantic proximity Read ↗

Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiencySemantic proximity Read ↗

A Novel Homozygous TTC7A Missense Mutation Results In Familial Multiple Intestinal Atresia And Combined ImmunodeficiencySemantic proximity Read ↗

Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.Semantic proximity Read ↗

TTC7A: Steward of Intestinal HealthSemantic proximity Read ↗

Distinct heterozygous <i>TTC7A</i> missense variants lead to different intestinal epithelial phenotypes in pediatric IBDSemantic proximity Read ↗

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

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

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.Semantic proximity Read ↗

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.Semantic proximity Read ↗

Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.Semantic proximity Read ↗

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