Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

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ID: 270291
2012
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Abstract
CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults. We extend the clinical and pathogenic description of this novel autoinflammator …
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Authors Liu Y;Ramot Y;Torrelo A;Paller AS;Si N;Babay S;Kim PW;Sheikh A;Lee CC;Chen Y;Vera A;Zhang X;Goldbach-Mansky R;Zlotogorski A;;
Journal Arthritis and rheumatism
Year 2012
DOI
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URL
https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21953331&dopt=Abstract
Keywords
National Center for Biotechnology Information NCBI NLM MEDLINE humans pubmed abstract nih national institutes of health national library of medicine research support female male N.I.H. Extramural adolescent codon Child preschool Genotype mutation stat1 transcription factor / genetics gene expression profiling syndrome chronic disease mutation* stat1 transcription factor / metabolism dna mutational analysis nonsense missense pmid:21953331 pmc3278554 doi:10.1002/art.33368 yin liu yuval ramot abraham zlotogorski chemokine cxcl10 / blood genetic heterogeneity* interferon-gamma / blood lipodystrophy / blood lipodystrophy / diagnosis lipodystrophy / genetics* proteasome endopeptidase complex / blood proteasome endopeptidase complex / genetics* sweet syndrome / blood sweet syndrome / diagnosis sweet syndrome / genetics*

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