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TRAPing a new gene for autoimmunity

Two new studies show that mutations in tartrate-resistant acid phosphatase (TRAP) cause spondyloenchondrodysplasia, a rare recessive disease associated with short stature, brain calcifications and lupus-like autoimmunity. The complex clinical syndrome is probably mediated by impaired dephosphorylation of osteopontin.

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Figure 1: Mutations in TRAP lead to elevated levels of phosphorylated OPN and IFN-α.

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Correspondence to Timothy W Behrens or Robert R Graham.

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T.W.B. and R.R.G. are full-time employees of Genentech.

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Behrens, T., Graham, R. TRAPing a new gene for autoimmunity. Nat Genet 43, 90–91 (2011). https://doi.org/10.1038/ng0211-90

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