Biomaterial Database

Screening for primary immunodeficiencies associated with purine nucleoside phosphorylase deficiency or adenosine deaminase deficiency. 1977

K Ito, and N Sakura, and T Usui, and H Uchino

A screening method has been established for PNP deficiency. This enzyme activity in dried blood absorbed on filter paper can be detected by the formation of a blue insoluble formazan with a gel containing inosine, xanthine oxidase, MTT-tetrazolium, and phenazine methosulfate. The color change is very clear and definite and no false results have been obtained in the testing of 256 enzyme-positive and 107 enzyme-negative samples. The enzyme activity in dried blood on filter paper is so stable at room temperature that samples can be mailed. A screening method for ADA deficiency was developed, also depending on the color change of MTT-tetrazolium. Although the test is slightly more expensive than that developed by Moore and Meuwissen, its accuracy is greater. A common screening method for detecting deficiencies of either PNP or ADA is described.

UI	MeSH Term	Description	Entries
D007153	Immunologic Deficiency Syndromes	Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	Antibody Deficiency Syndrome,Deficiency Syndrome, Immunologic,Deficiency Syndromes, Antibody,Deficiency Syndromes, Immunologic,Immunologic Deficiency Syndrome,Immunological Deficiency Syndromes,Antibody Deficiency Syndromes,Deficiency Syndrome, Antibody,Deficiency Syndrome, Immunological,Deficiency Syndromes, Immunological,Immunological Deficiency Syndrome,Syndrome, Antibody Deficiency,Syndrome, Immunologic Deficiency,Syndrome, Immunological Deficiency,Syndromes, Antibody Deficiency,Syndromes, Immunologic Deficiency,Syndromes, Immunological Deficiency
D009700	Nucleoside Deaminases	Catalyze the hydrolysis of nucleosides with the elimination of ammonia.	Deaminases, Nucleoside
D010430	Pentosyltransferases	Enzymes of the transferase class that catalyze the transfer of a pentose group from one compound to another.
D011683	Purine-Nucleoside Phosphorylase	An enzyme that catalyzes the reaction between a purine nucleoside and orthophosphate to form a free purine plus ribose-5-phosphate. EC 2.4.2.1.	Inosine Phosphorylase,Nicotinamide Riboside Phosphorylase,Purine Nucleoside Phosphorylases,Nucleoside Phosphorylases, Purine,Phosphorylase, Inosine,Phosphorylase, Nicotinamide Riboside,Phosphorylase, Purine-Nucleoside,Phosphorylases, Purine Nucleoside,Purine Nucleoside Phosphorylase,Riboside Phosphorylase, Nicotinamide
D006358	Hot Temperature	Presence of warmth or heat or a temperature notably higher than an accustomed norm.	Heat,Hot Temperatures,Temperature, Hot,Temperatures, Hot
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000243	Adenosine Deaminase	An enzyme that catalyzes the hydrolysis of ADENOSINE to INOSINE with the elimination of AMMONIA.	Adenosine Aminohydrolase,Aminohydrolase, Adenosine,Deaminase, Adenosine
D013056	Spectrophotometry, Ultraviolet	Determination of the spectra of ultraviolet absorption by specific molecules in gases or liquids, for example Cl2, SO2, NO2, CS2, ozone, mercury vapor, and various unsaturated compounds. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)	Ultraviolet Spectrophotometry
D013997	Time Factors	Elements of limited time intervals, contributing to particular results or situations.	Time Series,Factor, Time,Time Factor
D066298	In Vitro Techniques	Methods to study reactions or processes taking place in an artificial environment outside the living organism.	In Vitro Test,In Vitro Testing,In Vitro Tests,In Vitro as Topic,In Vitro,In Vitro Technique,In Vitro Testings,Technique, In Vitro,Techniques, In Vitro,Test, In Vitro,Testing, In Vitro,Testings, In Vitro,Tests, In Vitro,Vitro Testing, In