ALPI deficiency and inflammatory bowel disease

Study ID Alternative Stable ID Type
EGAS00001002847 Other

Study Description

Inflammatory bowel diseases (IBDs) are complex and severe disorders ascribed to alterations in the dialogue between the microbiota and the host immune system (Bouma & Strober, 2003; Maloy & Powrie, 2011). By using whole‐exome sequencing (WES), we report the identification of compound heterozygous ALPI mutations in two unrelated patients displaying severe intestinal inflammation and autoimmunity. ALPI encodes the Intestinal alkaline phosphatase, a brush border metalloenzyme that catalyses phosphate hydrolysis of the lipid moiety of LPS and thereby drastically reduces LPS pro‐inflammatory activity (Schromm et al, 1998; Goldberg et al, 2008).

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
This dataset contains raw sequences (BAM files) of P1 trio: mother, father and affected child (P1). Whole exome sequencing (WES).
Illumina HiSeq 2500 3

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