Caner Aytekin

TL;DR: A comprehensive evaluation of the clinical phenotype of DOCK8 deficiency in the largest cohort reported so far demonstrates the severity of the disease with relatively poor prognosis and early HSCT should be strongly considered as a potential curative measure.

TL;DR: The conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycOBacteria, such as BCG vaccines and environmental myc Cobacteria are reviewed.

TL;DR: Autosomal-recessive IL-17RA,IL-17RC, and ACT1 deficiencies and autosomal-dominant IL- 17F deficiency in humans underlie susceptibility to chronic mucocutaneous candidiasis.

TL;DR: DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures.

TL;DR: Data indicate that zinc-finger- and BTB24 is involved in DNA methylation of juxtacentromeric DNA and in B cell development and/or B and T cell interactions, and predicts that by studying the molecular function of ZBTB24, the understanding of the molecular pathophysiology of ICF syndrome and of lymphocyte biology in general will be improved.