Study Type: Observational
Study Design: Natural History
Further study details as provided by National Institutes of Health Clinical Center (CC):
Expected Total Enrollment: 600
Study start: December 14, 2005
This protocol is designed to study the genetics and pathophysiology of Hyper-IgM syndrome, NEMO associated immune deficiency, patients with related primary immune deficiency disorders, and the blood relatives of immunodeficient patients. Patients will undergo evaluations that include history/physical, blood sampling, genetic testing, and possible tissue sampling. Among the aims of this protocol are to better understand genetic factors that lead to defects in host defense, and to use modern and evolving methods in molecular and cellular biology to elucidate the pathogenesis of these diseases. A better understanding of primary immunodeficiency could allow for the rational development of novel therapies for such diseases and to benefit the future patients, but it might not benefit the current patients directly. Follow-up will occur every six months – with evaluation and blood sampling.