Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.4.2.8 (hypoxanthine-guanine phosphoribosyltransferase)
 2,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Somatic mutant frequencies (Mf) were determined using the HPRT T-cell cloning assay of peripheral blood T-lymphocytes from 14 children with juvenile onset dermatomyositis (JDM). Serologic parameters, specifically muscle enzyme determinations in JDM subjects, were correlated with residual lnMf (delta) in these patients to compare T-cell activation with clinical parameters associated with JDM. In addition TCR analysis was performed to determine T-cell proliferation and clonality on 12 HPRT mutant isolates from two individuals with JDM. Statistically significant correlations were found between residual lnMf and the following serologic parameters: aldolase (r = 0.771, P = 0.015); CPK (r = 0.602, P = 0.023); and SGOT (r = 0.656, P = 0.011) in children with JDM. In addition, identical TCR gene rearrangements were identified in 86 and 40% of the HPRT mutant isolates from the two patient samples analyzed, which is a significantly higher level of clonality than the 10-15% expected in normal individuals. These data suggest that determining HPRT Mf can be a useful antigen-independent method of selecting clonally expanding T-lymphocytes in autoimmune disease where relevant antigens are unknown. Future analysis of HPRT mutant isolates from children with active myositis may increase our understand of the activated T-cells involved in this disease.
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PMID:Association among somatic HPRT mutant frequency, peripheral blood T-lymphocyte clonality, and serologic parameters of disease activity in children with juvenile onset dermatomyositis. 1021 55