Primary immunodeficiency studies at University of Alabama at BirminghamContinuing the search for genetic causes

Over the past two decades the genetic bases for virtually all the well-characterized primary immunodeficiency syndromes have been identified. The investigation of rare, poorly differentiated immunodeficiencies is being hampered by a preoccupation of funding agencies with hypothesis-driven proposals that apply poorly in the case of individual patients. Recent studies at our institution in collaboration with groups at NIH have resulted in the identification of two separate kindreds bearing unique mutations in molecules affecting immune function and a chromosomal linkage in a third family. Thus, a potential solution to the funding problem for studies in primary immunodeficiency could lie in the centralization of investigative expertise and support, perhaps within the walls of the National Institutes of Health, as has been done with great success in Europe.