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Article

How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2017

Nielsen Ole Haagen, LaCasse Eric Charles

Abstract excerpt

X-linked lymphoproliferative disease type 2 (XLP-2, OMIM 300635) is a primary immunodeficiency caused by the loss of X chromosome-linked inhibitor of apoptosis (XIAP), the X-linked inhibitor of apoptosis gene at Xq25. XLP-2 individuals are susceptible to several specific and potentially fatal infections, such as Epstein-Barr virus (EBV). Children with XIAP-related XLP-2 may present with either familial...

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Identifiers

PMID: 27416006
DOI: 10.1038/gim.2016.82

Genes

XIAP

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Related research

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How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.PMID 27416006Read ↗

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Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.Semantic proximity Read ↗

Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease.Semantic proximity Read ↗

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