Publications by authors named "H C Hennies"
Dupuytren's disease (DD) is a highly heritable fibrotic disorder of the hand with incompletely understood etiology. A number of genetic loci, including Wnt signaling members, have been previously identified. Our overall aim was to identify novel genetic loci, to prioritize genes within the loci for functional studies, and to assess genetic correlation with associated disorders.
View Article and Find Full Text PDFIchthyoses are a heterogeneous group of cornification disorders. The most common form of ichthyoses is ichthyosis vulgaris (IV) ([OMIM] #146,700), which can be inherited as autosomal semi-dominant mutation in the filaggrin gene (FLG). We present the findings of a study involving 35 Saudi patients with a clinical diagnosis of ichthyosis vulgaris.
View Article and Find Full Text PDFArticle Synopsis
- Inborn errors of immunity (IEI) lead to immune dysfunction, causing increased risks of infections and diseases like cancer, as seen in a consanguineous family with Hodgkin lymphoma and severe immune issues.
- Family members showed variable weaknesses in natural killer (NK) cells and cytotoxic T cell functions, and genetic analysis revealed harmful variants linked to specific disorders.
- The study suggests that these genetic variants may worsen immune responses and overall disease severity, highlighting the importance of understanding genetic interactions for effective treatment strategies.
Article Synopsis
- * Greither syndrome, another disorder linked to KRT1 mutations, presents with thick yellow scaling on the skin and has distinct features that differ from AEI.
- * A case study of a 3-year-old girl shows symptoms of AEI that resemble Greither syndrome, suggesting a new pathogenic variant in the KRT1 gene may be involved in her condition.