Childhood-onset autoimmune cytopenia as the presenting feature of biallelicACP5mutations-Reference-Cited by-同舟云学术

Childhood-onset autoimmune cytopenia as the presenting feature of biallelicACP5mutations

Published:2016-10-08 Issue:2 Volume:64 Page:306-310
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Sacri Anne-Sylvia¹,Bruwier Annelyse²,Baujat Geneviève³⁴,Breton Sylvain⁵,Blanche Stéphane¹⁴,Briggs Tracy A⁶⁷,Bader-Meunier Brigitte¹⁴

Affiliation:

1. Department of Pediatric Immunology, Hematology and Rheumatology; Hôpital Necker; APHP; Paris France

2. Department of Pediatric Hematology Oncology; Clinique Universitaire Saint-Luc; Université Catholique de Louvain; Brussels Belgium

3. Department of Clinical Genetics; Hôpital Necker; APHP; Paris France

4. Institut IMAGINE; Paris France

5. Department of Pediatric Radiology; Hôpital Necker; APHP; Paris

6. Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust; Manchester Academic Health Science Centre; Manchester UK

7. Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health; The University of Manchester; Manchester M13 9PT

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.26195/fullpdf

Reference24 articles.

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2. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature;Briggs;Nat Genet,2011

3. Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers;Schorr;Radiology,1976

4. A case of infantile generalized lupus erythematosus with unusual bone changes;Scharer;Helv Paediatr Acta,1958

5. Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications, and chondrocyte inclusions;Frydman;Am J Med Genet,1990

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5. Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to Mutation in ACP5;Journal of Pediatric Genetics;2021-11-02