Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alaskan Eskimos have the highest known prevalence of invasive Haemophilus influenzae type b (Hib) disease, primarily meningitis, affecting 1-5% of all children in the first two years of life. In this population a polymorphic genetic variant of the pyrimidine pathway enzyme, uridine monophosphate kinase-3 (UMPK-3), was found to be positively associated with invasive Hib disease (relative risk 3.3) and a tendency towards a younger age at onset of illness. There was no difference in levels of naturally acquired Hib anticapsular antibody between persons with Hib disease and healthy controls in this population. This suggests that UMPK-3 may have a role in mediating non-humoral immunity to Hib. However, unlike other enzyme variants in the nucleoside synthesis pathways which result in syndromes of severe immunodeficiency, this gene appears to confer a more subtle disease susceptibility.
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PMID:Uridine monophosphate kinase 3: a genetic marker for susceptibility to Haemophilus influenzae type B disease. 286 46

A polymorphic genetic variant of the pyrimidine pathway enzyme, uridine monophosphate kinase-3 (UMPK-3), was positively associated with invasive Hib disease. All UMPK 3-3 homozygotes in this study were Hib cases, and we found that in cases and controls, there was no difference between UMPK phenotype and serum levels of total Hib antibody as measured by radioimmunoassay. This suggests that UMPK-3 may play a role in mediating the non-humoral immunity to Hib. However, unlike other enzyme variants in the nucleoside synthesis pathways which result in syndromes of severe immunodeficiency, this gene appears to confer a more subtle disease susceptibility. Thus, the UMPK-3 allele, although rare in Caucasians, is associated with an increased risk of invasive Hib infection in Alaskan Eskimos.
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PMID:Uridine monophosphate kinase and susceptibility to invasive Haemophilus influenzae type B disease. 301 29