Purine nucleotide imbalance in immunodeficiency disorders.

摘要: In 1972, Dr Hilaire Meuwissen of Albany, New York, sent some blood samples to Eloise Giblett the Puget Sound Blood Center, Seattle, Washington, for analysis genetic markers. One was from a patient with severe combined immunodeficiency disease and other were patient’s parents Dr. prepared perform bone marrow transplant in preparation eventual necessity documenting cell chimerism, attempting obtain as many markers possible prove establishment graft. Much Giblett’s surprise, one enzymes, adenosine deaminase (ADA) (EC 3.5.4.4) absent while had approximately one-half normal activity. Several weeks later, Flossie Cohen Detroit specimen an additional disease. This also lacked ADA activity, levels lower than normal. 1973, symposium on deficiency held York. After careful review laboratory biochemical data, it determined that 12 22 patients SCID who been tested activity North American Western Europe ADA-deficient. Also Jenkins reported finding !Kung aborigine boy red but function. Subsequently lymphocytes fibroblasts 10–30% Recent reviews summarize these cases [24].