Size-Dependent Optical Properties of Dendronized Perylenediimide Nanoparticle Prepared by Laser Ablation in Water

Fluorescent nanoparticles of dendronized perylenediimide (DPDI) were fabricated by laser ablation in water. We succeeded in the preparation of colloidal nanoparticles of different sizes (150–400 nm) and examined their size-dependent optical absorption and fluorescence properties. The size-dependent extinction spectra can be explained by the effect of light scattering loss, and it was confirmed that their absorption spectrum is similar to that of molecules in solution. The very weak interchromophoric interaction is also confirmed by fluorescence spectral measurement. On the other hand, we found that the fluorescence quantum yield decreases with decreasing of the particle size, and we propose a new mechanism for the size-dependent reduction of emission intensity in organic nanoparticles. On the basis of the size dependent-fluorescence quantum yield and solvent polarity dependence of DPDI fluorescence in organic solvents, we considered that, while the interchromophoric interactions are weak in the nanoparticle, the excited singlet state migrates in a nanoparticle owing to energy hopping and is quenched at the surface, leading to the observed size-dependent fluorescence quantum yield (Φ_f) and a smaller value of Φ_f for nanoparticles than for the molecules in nonpolar solvents

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time. Additional features not typically associated with common variable immunodeficiency were diagnosed only later, including skeletal and organ anomalies and mild facial dysmorphism. Whole exome sequencing revealed KMT2-Aassociated Wiedemann-Steiner syndrome in one sibling pair and their mother. In the other sibling pair, targeted testing of the known disease gene for Roifman syndrome (RNU4ATAC) provided a definite diagnosis. With this study, we underline the importance of an early-stage and thorough genetic assessment in paediatric patients with a common variable immunodeficiency phenotype, to establish a conclusive diagnosis and guide patient management. In addition, this study extends the mutational and immunophenotypical spectrum of Wiedemann-Steiner and Roifman syndromes and highlights potential directions for future pathophysiological research