Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0043167 (pertussis)
 19,595 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The defect in Leiner's disease, which presents in early infancy with extensive dermatitis, diarrhoea, and failure to thrive, has been attributed to a defect of the fifth component of complement (C5). We report 2 brothers with extensive dermatitis and dysgammaglobulinaemia. Both died. The older showed symptoms of Leiner's disease: C5 tests were not performed. The younger had extensive dermatitis and was found to have the C5 defect. He developed normally, but died suddenly with pertussis. We postulate that the C5 defect is not the sole cause of Leiner's disease as has been suggested, but that hypogammaglobulinaemia or other lymphoid deficiency is also required for its expression.
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PMID:Yeast opsonization defect and immunoglobulin deficiency in severe infantile dermatitis (Leiner's disease). 14 62

Our laboratory has generated a genetically mutant mouse in which the alpha subunit of the heterotrimeric GTP binding protein, G(z) has been made dysfunctional by homologous recombination to determine its in vivo function. These animals show a characteristic failure to thrive phenotype. G(z alpha) is expressed in a variety of nervous system tissues as well as in the adrenal medulla. We therefore examined the autonomic nervous system of the G(z alpha) deficient mouse by measuring the activity of tyrosine hydroxylase and choline acetyltransferase in the superior cervical ganglia, submaxillary gland and the adrenal medulla. Preliminary results using animals of mixed BALB/c and C57BL/6 strains gave inconsistent results. Further experiments demonstrated differences in the activity of tyrosine hydroxylase and choline acetyltransferase between BALB/c and C57BL/6 mouse strains. The analysis of the pure strains showed a reduction in the size and enzyme levels of the adrenal gland and submaxillary glands of the G(z alpha) deficient mouse suggesting a role for adrenal insufficiency and/or nutritional disorders for the failure to thrive phenotype. The survival of sympathetic and sensory neurons was also examined in the G(z alpha) deficient mouse and in the presence of pertussis toxin, sympathetic but not sensory neuronal survival in G(z alpha) deficient mice was significantly attenuated. This suggests that in vivo other pertussis toxin sensitive G proteins may be recruited to compensate for the loss of G(z alpha).
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PMID:G(z alpha) deficient mice: enzyme levels in the autonomic nervous system, neuronal survival and effect of genetic background. 1200 73

We present a case report of a small boy with cystic fibrosis complicated by pertussis and pneumothorax. The child had not been vaccinated against Bordetella pertussis due to the failure to thrive and was infected with the bacterium at the age of 4 months. The course of the disease was severe, with respiratory distress and spontaneous pneumothorax. The diagnosis of pertussis was serologically confirmed. A suspicion for cystic fibrosis increased after an unusually prolonged course of the disease and a history of the failure to thrive. A comprehensive diagnostic procedure revealed Pseudomonas aeruginosa respiratory infection, anemia, pancreatic insufficiency, a positive sweat test and the presence of two CFTR gene mutations. The patient, treated with comprehensive cystic fibrosis therapy, recovered from acute respiratory illness and started to thrive soon.
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PMID:[Pertussis in a 4-month-old infant with unrecognized cystic fibrosis]. 2338 10