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Study Description

Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA) is a rare genetic disorder with the cause previously unknown. Symptoms of CID-MIA include atresias in the small and/or large intestine, as well as immunodeficiency. In this study, we sequenced the whole exome of 5 unrelated CID-MIA patients as well as their healthy family members, and identified deleterious homozygous or compound heterozygous mutations in the gene TTC7A in all the 5 patients, as well as in 3 additional patients with Sanger sequencing. Our findings strongly indicate TTC7A dysfunction to be the cause for CID-MIA.

  • Study Type: Family
  • Number of study subjects that have individual level data available through Authorized Access: 15

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Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Inclusion Criteria:

Families with probands with Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA).

Exclusion Criteria: N. A.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Exome Sequencing Agilent SureSelectXT Human All Exon 50Mb N/A N/A
Whole Exome Sequencing Illumina HiSeq 2000 N/A N/A 101bp paired-end; FASTQ 1.9.0 read
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Diseases/Traits Related to Study (MESH terms)
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