DOK 8

Researchers are studying immune disorders that may have a genetic cause, including immune deficiencies, allergies, and autoimmune diseases like lupus or arthritis. The study aims to identify the genes responsible for these conditions, understand the medical problems they cause, and learn how to predict who might develop these disorders and the risk of passing them to children. The research involves families with known or suspected genetic immune disorders to increase knowledge about the immune system and these conditions. Participants include patients with immune disorders and their family members. They provide blood samples for genetic and white blood cell analysis. Additional samples may be collected through mouth brushing or skin biopsy. Pregnant women might be asked to provide fetal samples. All samples are used for genetic and immune studies related to the family's immune disorder. If a specific genetic variation is identified, results will be shared with the patient's doctor or genetic counselor, with support from NIH researchers. During the study, participants' medical records and family history are reviewed for eligibility. Testing includes immunologic and DNA sequence analysis as needed. Researchers track the natural history of disease and perform genotype/phenotype analysis. Participants may be invited for further visits if a genetic basis is found. The study involves one or more blood draws, which may be repeated, and assessments over time to better understand immune disorders and guide treatment and family planning decisions.