Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.
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DOI: 10.1111/1756-185x.13228
Abstract: To report the clinical and genetic features of the first cases of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome in an Arab population and to compare them with patients of C1q… read more here.
Keywords: c1q deficient; interferonopathies phenotypic; genotypic findings; phenotypic genotypic ... See more keywords
Lung involvement in monogenic interferonopathies
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DOI: 10.1183/16000617.0001-2020
Abstract: Monogenic type I interferonopathies are inherited heterogeneous disorders characterised by early onset of systemic and organ specific inflammation, associated with constitutive activation of type I interferons (IFNs). In the last few years, several clinical reports… read more here.
Keywords: onset; involvement monogenic; type; lung involvement ... See more keywords