Biomaterial Database

Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency. 1978

E W Gelfand, and I H Fox, and M Stuckey, and H M Dosch

Immunological and biochemical studies were carried out in two patients with the Lesch-Nyhan syndrome. No abnormalities of T- or B-lymphocyte function could be demonstrated in the presence of hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency.

UI	MeSH Term	Description	Entries
D007041	Hypoxanthine Phosphoribosyltransferase	An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.	Guanine Phosphoribosyltransferase,HPRT,Hypoxanthine-Guanine Phosphoribosyltransferase,IMP Pyrophosphorylase,HGPRT,HPRTase,Hypoxanthine Guanine Phosphoribosyltransferase,Phosphoribosyltransferase, Guanine,Phosphoribosyltransferase, Hypoxanthine,Phosphoribosyltransferase, Hypoxanthine-Guanine,Pyrophosphorylase, IMP
D007926	Lesch-Nyhan Syndrome	An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)	Choreoathetosis Self-Mutilation Hyperuricemia Syndrome,Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease,Choreoathetosis Self-Mutilation Syndrome,Complete HGPRT Deficiency Disease,Complete HPRT Deficiency,Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency,Deficiency Disease, Complete HGPRT,Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase,Deficiency of Guanine Phosphoribosyltransferase,Deficiency of Hypoxanthine Phosphoribosyltransferase,HGPRT Deficiency,HGPRT Deficiency Disease, Complete,Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency,Hypoxanthine Guanine Phosphoribosyltransferase Deficiency,Hypoxanthine Phosphoribosyltransferase Deficiency,Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome,Juvenile Hyperuricemia Syndrome,Lesch-Nyhan Disease,Primary Hyperuricemia Syndrome,Total HPRT Deficiency,Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency,X-Linked Hyperuricemia,X-Linked Primary Hyperuricemia,Choreoathetosis Self Mutilation Hyperuricemia Syndrome,Choreoathetosis Self Mutilation Syndrome,Choreoathetosis Self-Mutilation Syndromes,Complete HPRT Deficiencies,Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency,Deficiencies, Complete HPRT,Deficiencies, HGPRT,Deficiencies, Hypoxanthine Phosphoribosyltransferase,Deficiencies, Total HPRT,Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase,Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase,Deficiency, Complete HPRT,Deficiency, HGPRT,Deficiency, Hypoxanthine Phosphoribosyltransferase,Deficiency, Total HPRT,Guanine Phosphoribosyltransferase Deficiencies,Guanine Phosphoribosyltransferase Deficiency,HGPRT Deficiencies,HPRT Deficiencies, Complete,HPRT Deficiencies, Total,HPRT Deficiency, Complete,HPRT Deficiency, Total,Hyperuricemia Syndrome, Juvenile,Hyperuricemia Syndrome, Primary,Hyperuricemia Syndromes, Juvenile,Hyperuricemia Syndromes, Primary,Hyperuricemia, X-Linked,Hyperuricemia, X-Linked Primary,Hyperuricemias, X-Linked,Hyperuricemias, X-Linked Primary,Hypoxanthine Phosphoribosyl Transferase Deficiency Disease,Hypoxanthine Phosphoribosyltransferase Deficiencies,Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases,Juvenile Hyperuricemia Syndromes,Lesch Nyhan Disease,Lesch Nyhan Syndrome,Phosphoribosyltransferase Deficiencies, Guanine,Phosphoribosyltransferase Deficiencies, Hypoxanthine,Phosphoribosyltransferase Deficiency, Guanine,Phosphoribosyltransferase Deficiency, Hypoxanthine,Primary Hyperuricemia Syndromes,Primary Hyperuricemia, X-Linked,Primary Hyperuricemias, X-Linked,Self-Mutilation Syndrome, Choreoathetosis,Self-Mutilation Syndromes, Choreoathetosis,Syndrome, Choreoathetosis Self-Mutilation,Syndrome, Juvenile Hyperuricemia,Syndrome, Primary Hyperuricemia,Syndromes, Choreoathetosis Self-Mutilation,Syndromes, Juvenile Hyperuricemia,Syndromes, Primary Hyperuricemia,Total HPRT Deficiencies,Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency,X Linked Hyperuricemia,X Linked Primary Hyperuricemia,X-Linked Hyperuricemias,X-Linked Primary Hyperuricemias
D008297	Male		Males
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000917	Antibody Formation	The production of ANTIBODIES by proliferating and differentiated B-LYMPHOCYTES under stimulation by ANTIGENS.	Antibody Production,Antibody Response,Antibody Responses,Formation, Antibody,Production, Antibody,Response, Antibody,Responses, Antibody
D001402	B-Lymphocytes	Lymphoid cells concerned with humoral immunity. They are short-lived cells resembling bursa-derived lymphocytes of birds in their production of immunoglobulin upon appropriate stimulation.	B-Cells, Lymphocyte,B-Lymphocyte,Bursa-Dependent Lymphocytes,B Cells, Lymphocyte,B Lymphocyte,B Lymphocytes,B-Cell, Lymphocyte,Bursa Dependent Lymphocytes,Bursa-Dependent Lymphocyte,Lymphocyte B-Cell,Lymphocyte B-Cells,Lymphocyte, Bursa-Dependent,Lymphocytes, Bursa-Dependent
D013601	T-Lymphocytes	Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.	T Cell,T Lymphocyte,T-Cells,Thymus-Dependent Lymphocytes,Cell, T,Cells, T,Lymphocyte, T,Lymphocyte, Thymus-Dependent,Lymphocytes, T,Lymphocytes, Thymus-Dependent,T Cells,T Lymphocytes,T-Cell,T-Lymphocyte,Thymus Dependent Lymphocytes,Thymus-Dependent Lymphocyte