Title: Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
Authors: Briggs, Tracy A ×
Rice, Gillian I
Daly, Sarah
Urquhart, Jill
Gornall, Hannah
Bader-Meunier, Brigitte
Baskar, Kannan
Baskar, Shankar
Baudouin, Veronique
Beresford, Michael W
Black, Graeme C M
Dearman, Rebecca J
de Zegher, Francis
Foster, Emily S
Francès, Camille
Hayman, Alison R
Hilton, Emma
Job-Deslandre, Chantal
Kulkarni, Muralidhar L
Le Merrer, Martine
Linglart, Agnes
Lovell, Simon C
Maurer, Kathrin
Musset, Lucile
Navarro, Vincent
Picard, Capucine
Puel, Anne
Rieux-Laucat, Frederic
Roifman, Chaim M
Scholl-Bürgi, Sabine
Smith, Nigel
Szynkiewicz, Marcin
Wiedeman, Alice
Wouters, Carine
Zeef, Leo A H
Casanova, Jean-Laurent
Elkon, Keith B
Janckila, Anthony
Lebon, Pierre
Crow, Yanick J #
Issue Date: Feb-2011
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:43 issue:2 pages:127-U71
Abstract: 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 analysis yielded a combined multipoint log(10) odds (LOD) score of 3.6. Sequencing of ACP5, encoding tartrate-resistant acid phosphatase, identified biallelic mutations in each of the cases studied, and in vivo testing confirmed a loss of expressed protein. All eight cases assayed showed elevated serum interferon alpha activity, and gene expression profiling in whole blood defined a type I interferon signature. Our findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism and highlight the importance of type I interferon in the genesis of autoimmunity.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Pediatric Immunology
Section Newborn (-)
× corresponding author
# (joint) last author

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