Tartrate-resistant acid phosphatase type 5

None (1958) [A case of infantile generalized lupus erythematosus with unusual bone changes].

Briggs TA et al. (2016) Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Bilginer Y et al. (2016) Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.

de Bruin C et al. (2016) Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

Girschick H et al. (2015) Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.

Briggs TA et al. (2011) Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

Lausch E et al. (2011) Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Navarro V et al. (2008) Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

Renella R et al. (2006) Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

Lord DK et al. (1990) Type 5 acid phosphatase. Sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage.

Roifman CM et al. (2003) A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.

Bune AJ et al. (2001) Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus.

Hayman AR et al. (1996) Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis.

Grimes R et al. (1993) Assignment of the mouse tartrate-resistant acid phosphatase gene (Acp5) to chromosome 9.

Leach RJ et al. (1994) Confirmation of the assignment of the human tartrate-resistant acid phosphatase gene (ACP5) to chromosome 19.

Ketcham CM et al. (1989) Molecular cloning of the type 5, iron-containing, tartrate-resistant acid phosphatase from human placenta.

Allen BS et al. (1989) Localization of the human type 5, tartrate-resistant acid phosphatase gene by in situ hybridization.

Frydman M et al. (1990) Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions.