Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene-Reference-Cited by-同舟云学术

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

Published:2015-09-07 Issue:1 Volume:13 Page:
ISSN:1546-0096
Container-title:Pediatric Rheumatology
language:en
Short-container-title:Pediatr Rheumatol

Author:

Girschick Hermann,Wolf Christine,Morbach Henner,Hertzberg Christoph,Lee-Kirsch Min Ae

Publisher

Springer Science and Business Media LLC

Subject

Immunology and Allergy,Rheumatology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12969-015-0035-7

Reference11 articles.

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2. Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, et al. Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A. 2006;140:541–50.

3. Frydman M, Bar-Ziv J, Preminger-Shapiro R, Brezner A, Brand N, Ben-Ami T, et al. Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. Am J Med Genet. 1990;36:279–84.

4. Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet. 2011;43:127–31.

5. Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, de Laet C, et al. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011;43:132–7.

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