Methylation profiling by array of blood cells from patients with tartrate resistant acid phosphatase deficiency

ABSTRACT: The autosomal recessive immuno-osseus dysplasia spondyloenchondrodysplasia (SPENCD) is characterised by the variable combination of metaphyseal and vertebral bone lesions, immune dysfunction with features of both autoimmunity and immunodeficiency, and neurological involvement including developmental delay and spasticity with intracranial calcification and leukodystrophy. This transcription profiling study of blood compared four patients to two control subjects. A deficiency of ACP5 encoding tartrate resistant acid phosphatase (TRAP) was found to cause this skeletal dysplasia demonstrating a type I interferon signature with autoimmunity.

ORGANISM(S): Homo sapiens

DISEASE(S): immuno-osseus dysplasiaspondyloenchondrodysplasia (SPENCD)

SUBMITTER: Leo Zeef 

PROVIDER: E-MEXP-2699 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress