Molecular and Clinical Studies of Primary Immunodeficiency Diseases
The purpose of this protocol is to study patients with primary immunodeficiency disorders
with the goal of contributing to both the clinical and molecular understanding of this
heterogeneous group of inherited diseases. Clinical issues to be addressed will include
disease manifestations and evolution, as well prevention and management of medical problems.
Patients with diseases of known molecular basis (including Wiskott-Aldrich syndrome, ADA
deficiency, JAK3 deficiency and other syndromes) will be genotyped in order to investigate
phenotype-genotype correlation. Patients with disease of unknown or incomplete genetic
characterization will be studied with hopes of contributing to the identification of
specific genes responsible for disease. Studies of fresh cells, cell lines and tissue
samples will be performed to help characterize the patient's syndrome as well as to test the
efficacy of genetic correction when available.
The outcome we seek is to improve our knowledge of the molecular basis, clinical
presentation and evolution of primary immunodeficiency diseases and to collaborate to
maintain or improve the health status of our patients. It is anticipated that additional
protocols will be generated from preliminary data gathered in this umbrella study.
Fabio Candotti, M.D.
National Human Genome Research Institute (NHGRI)
United States: Federal Government
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Bethesda, Maryland 20892|