Linked Life Data

21914180

Source:http://linkedlifedata.com/resource/pubmed/id/21914180

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-10-3
pubmed:abstractText
ABSTRACT: Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell deficiency, and renal failure. We present a child with severe SIOD who developed rituximab resistant Evans syndrome (ES). Consistent with observations in several other immunodeficiency disorders, a review of SIOD patients showed that approximately a fifth of SIOD patients have some features of autoimmune disease. To our best knowledge this case represents the first patient with SIOD and rituximab resistant ES and the first study of autoimmune disease in SIOD.
pubmed:language
eng
pubmed:journal
pubmed:status
PubMed-not-MEDLINE
pubmed:issn
1546-0096
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
27
pubmed:year
2011
pubmed:articleTitle
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
pubmed:affiliation
Department of Pediatrics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic. jakubzieg@hotmail.com.
pubmed:publicationType
Journal Article