Publications by authors named "Johanna Schepp"
Two new, isostructural members of the title material class, [PPh][CuBiI] (1) and [PPh][AgBiI] (2), have been prepared via a facile solution route. The crystal structure of both compounds features a tetranuclear [MBiI] (M = Cu, Ag) anion that displays an unprecedented face-sharing mode of connection between BiI octahedra and MI tetrahedra, enabling close Bi···M contacts. The two compounds allow for a direct experimental and quantum chemical investigation of the influence of group 11 metal cations on the optical and electronic properties of ternary iodido bismuthate anions, indicating that Cu is a better electronic match than Ag, resulting in a significantly lower optical band gap of the copper compound.
View Article and Find Full Text PDFBackground: Inducible co-stimulator (ICOS) deficiency was the first monogenic defect reported to cause common variable immunodeficiency (CVID)-like disease in 2003. Since then, 16 patients have been reported worldwide with an increasing range of clinical phenotypes.
Objective: We sought to compare the clinical and immunological phenotype and provide clinical follow-up and therapeutic approaches for treating ICOS-deficient patients.
Objective: We aimed to test the relevance of deficiency of adenosine deaminase 2 (DADA2) in patients with antibody deficiency and describe the clinical picture of the disease in adulthood.
Methods: We screened for DADA2 in a cohort of 181 patients with antibody deficiency with or without vascular lesions using next-generation sequencing and targeted Sanger sequencing. All mutations were confirmed by determining the ADA2 enzymatic activity levels in dried plasma spots.
Purpose: Determining the monogenic cause of antibody deficiency and immune dysregulation in a non-consanguineous family with healthy parents, two affected children, and one unaffected child.
Methods: Whole Exome Sequencing (WES) was performed in the index family. WES results were confirmed by Sanger Sequencing.