DOK 8

This research aims to identify the genes responsible for certain immune disorders, understand the medical problems they cause, and learn how to predict who might develop these disorders and their risk of passing them to children. It focuses on immune deficiencies that affect the bodys ability to fight infections, allergies, or autoimmune diseases like lupus and arthritis, where the immune system attacks the bodys own tissues. The study explores rare inherited or new genetic mutations affecting the immune systems function and their links to clinical symptoms. Participants include patients with known or suspected genetic immune disorders and their family members. Eligibility is based on medical records and family history. Participants provide small samples such as blood, mouth brushing, or skin biopsies for genetic and immune system analysis. Pregnant women might provide fetal samples such as amniotic fluid or chorionic villus samples. These samples support immune and genetic studies to identify specific genetic variations causing the disorders. During the study, researchers review clinical information and perform immunologic tests and DNA analysis on affected individuals and at-risk family members. Healthy relatives may serve as controls. If a genetic cause is found, results are shared with the patients doctor or genetic counselor for further discussion. Researchers assess genetic modifiers, track disease progression over time, and conduct genotype-phenotype analyses. Participant involvement may include repeated blood draws and ongoing health history reviews to better understand immune disorders.