Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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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

SUBMITTER: Leo Zeef 

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

REPOSITORIES: biostudies-arrayexpress

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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

Briggs Tracy A TA   Rice Gillian I GI   Daly Sarah S   Urquhart Jill J   Gornall Hannah H   Bader-Meunier Brigitte B   Baskar Kannan K   Baskar Shankar S   Baudouin Veronique V   Beresford Michael W MW   Black Graeme C M GC   Dearman Rebecca J RJ   de Zegher Francis F   Foster Emily S ES   Francès Camille C   Hayman Alison R AR   Hilton Emma E   Job-Deslandre Chantal C   Kulkarni Muralidhar L ML   Le Merrer Martine M   Linglart Agnes A   Lovell Simon C SC   Maurer Kathrin K   Musset Lucile L   Navarro Vincent V   Picard Capucine C   Puel Anne A   Rieux-Laucat Frederic F   Roifman Chaim M CM   Scholl-Bürgi Sabine S   Smith Nigel N   Szynkiewicz Marcin M   Wiedeman Alice A   Wouters Carine C   Zeef Leo A H LA   Casanova Jean-Laurent JL   Elkon Keith B KB   Janckila Anthony A   Lebon Pierre P   Crow Yanick J YJ  

Nature genetics 20110109 2

We studied ten individuals from eight families showing features consistent with the immuno-osseous dysplasia spondyloenchondrodysplasia. Of particular note was the diverse spectrum of autoimmune phenotypes observed in these individuals (cases), including systemic lupus erythematosus, Sjögren's syndrome, hemolytic anemia, thrombocytopenia, hypothyroidism, inflammatory myositis, Raynaud's disease and vitiligo. Haplotype data indicated the disease gene to be on chromosome 19p13, and linkage analysi  ...[more]

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