Combined immunodeficiency due to DOCK8 deficiency

This study looks at the tiny organisms living on our skin—like bacteria and fungi—and how they might differ in people with eczema (atopic dermatitis). Researchers will collect skin samples from healthy volunteers and patients aged 2 to 40 with moderate to severe eczema, as well a…

This study collects blood stem cells from adults aged 18-40 with DOCK8 deficiency, LAD-1, or GATA2 deficiency. Participants receive daily injections of G-CSF for 5 days to move stem cells into the blood, then undergo a single leukapheresis procedure to collect them. The cells are…

This study aims to learn more about Hyper IgE syndrome, a rare immune disorder that causes skin and lung infections. Researchers will follow 600 patients and their relatives over time, examining their health and genetics. The goal is to better understand the disease and improve c…