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

被引：200

作者：

Briggs, Tracy A. ^{[1
]}

Rice, Gillian I. ^{[1
]}

Daly, Sarah ^{[1
]}

Urquhart, Jill ^{[1
]}

Gornall, Hannah ^{[1
]}

Bader-Meunier, Brigitte ^{[2
]}

Baskar, Kannan ^{[3
]}

Baskar, Shankar ^{[3
]}

Baudouin, Veronique ^{[4
]}

Beresford, Michael W. ^{[5
]}

Black, Graeme C. M. ^{[1
]}

Dearman, Rebecca J. ^{[6
]}

de Zegher, Francis ^{[7
]}

Foster, Emily S. ^{[6
]}

Frances, Camille ^{[8
]}

Hayman, Alison R. ^{[9
]}

Hilton, Emma ^{[1
]}

Job-Deslandre, Chantal ^{[10
]}

Kulkarni, Muralidhar L. ^{[3
]}

Le Merrer, Martine ^{[11
]}

Linglart, Agnes ^{[12
]}

Lovell, Simon C. ^{[6
]}

Maurer, Kathrin ^{[13
]}

Musset, Lucile ^{[14
]}

Navarro, Vincent ^{[15
]}

Picard, Capucine ^{[16
,17
,18
]}

Puel, Anne ^{[16
,17
]}

Rieux-Laucat, Frederic ^{[17
,19
]}

Roifman, Chaim M. ^{[20
]}

Scholl-Buergi, Sabine ^{[21
]}

Smith, Nigel ^{[22
]}

Szynkiewicz, Marcin ^{[1
]}

Wiedeman, Alice ^{[23
,24
]}

Wouters, Carine ^{[7
]}

Zeef, Leo A. H. ^{[6
]}

Casanova, Jean-Laurent ^{[16
,17
,25
]}

Elkon, Keith B. ^{[23
,24
]}

Janckila, Anthony ^{[26
]}

Lebon, Pierre ^{[27
]}

Crow, Yanick J. ^{[1
]}

机构：

[1] Univ Manchester, Manchester Acad Heath Sci Ctr, Manchester, Lancs, England

[2] Hop Necker Enfants Malad, AP HP, Dept Pediat Immunol Hematol & Rheumatol, Paris, France

[3] JJM Med Coll, Dept Pediat, Davangere, India

[4] Robert Debre Hosp, AP HP, Pediat Nephrol Dept, Paris, France

[5] Univ Liverpool, Inst Child Hlth, Liverpool L69 3BX, Merseyside, England

[6] Univ Manchester, Fac Life Sci, Manchester, Lancs, England

[7] Katholieke Univ Leuven, Dept Paediat, Louvain, Belgium

[8] Hop Tenon, Dept Dermatol & Allergy, F-75970 Paris, France

[9] Univ Bristol, Dept Vet Clin Sci, Bristol, Avon, England

[10] AP HP Cochin, Serv Rheumatol A, Paris, France

[11] Hop Necker Enfants Malad, INSERM, U781, Paris, France

[12] INSERM, U986, Paris, France

[13] Innsbruck Med Univ, Dept Radiol, Innsbruck, Austria

[14] AP HP, Dept Immunochem, Paris, France

[15] AP HP, Epilepsy Unit, Paris, France

[16] INSERM, Necker Fac, U980, Lab Human Genet Infect Dis, Paris, France

[17] Paris Descartes Univ, Necker Fac, Paris, France

[18] Hop Necker Enfants Malad, AP HP, Study Ctr Primary Immunodeficiencies, Paris, France

[19] Hop Necker Enfants Malad, INSERM, U768, Paris, France

[20] Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada

[21] Innsbruck Med Univ, Dept Pediat Neonatol Neuropediat & Inherited Meta, Innsbruck, Austria

[22] Univ Manchester, Paterson Inst Canc Res, Clin & Expt Pharmacol Grp, Manchester, Lancs, England

[23] Univ Washington, Dept Med, Seattle, WA USA

[24] Univ Washington, Dept Immunol, Seattle, WA 98195 USA

[25] Rockefeller Univ, Lab Human Genet Infect Dis, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA

[26] Vet Affairs Med Ctr, Special Hematol Lab, Robley Rex Dept, Louisville, KY USA

[27] Univ Paris 05, Serv Virol, Paris, France

来源：

NATURE GENETICS | 2011年 / 43卷 / 02期

基金：

英国生物技术与生命科学研究理事会;

关键词：

ALPHA PRODUCTION; ACP; 5; SERUM; SPONDYLOENCHONDRODYSPLASIA; OSTEOPONTIN; CELLS; TRACP; TREX1; DNA;

D O I：

10.1038/ng.748

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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, Sjogren'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.

引用

页码：127 / U71

页数：6

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