A Compound Mutation (c.953C < G and c.49G < A) Aggravates Functional Impairments of C1-INH in Hep G2 Cells

No abstract available.

Comparison and evaluation of several Dermatophagoides pteronyssinus allergen extracts for skin prick test / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To evaluate the significance of several Dermatophagoides pteronyssinus allergen extracts for skin prick test (SPT) in patients allergic to Dermatophagoides pteronyssinus.</p><p><b>METHODS</b>Two hundred and nineteen patients enrolled in Peking Union Medical College Hospital underwent SPT and serum specific IgE assay to detect the Dermatophagoides pteronyssinus allergen. Three kinds of house dust mite allergen extracts were used for SPT, including the Dermatophagoides pteronyssinus extract prepared by our laboratory (group A), standardized Dermatophagoides pteronyssinus extract (group B), and mixed extracts of Dermatophagoides pteronyssinus and Dermatophagoides farinae (group C). Human serum specific IgE result was regarded as the reference standard for diagnosis of Dermatophagoides pteronyssinus allergy. The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic performance of SPT with the extracts of three groups.</p><p><b>RESULTS</b>SPT results showed that the median wheal diameter of group A, group B, and group C was 0.43, 0.35, and 0.28 cm, respectively, with significant difference among three groups (P<0.05). The difference was significant between group A and B (P<0.01) as well as group A and C (P<0.01), but not between group B and C (P>0.05). There was no local urticaria or systemic allergic reactions following the procedure of SPT. Local reaction was observed in 5 patients and delayed reaction was in 2 patients of group A. As for group B and C, local reaction occurred in 3 cases and delayed reaction in 2 cases in each group. The area under ROC curve of SPT with extract in group A, group B, and group C was 0.765, 0.801, and 0.782, respectively. Based on the detection results of serum specific IgE, the sensitivity of SPT in diagnosis of Dermatophagoides pteronyssinus allergy with extract of group A, group B, and group C was 92.4%, 87.0%, and 81.5%, and the specificity was 60.6%, 73.2%, and 74.8%, respectively.</p><p><b>CONCLUSION</b>The Dermatophagoides pteronyssinus extract for SPT prepared by our laboratory offers good sensitivity and specificity comparable to commercially available allergen extracts, and it may be an appropriate candidate for clinical screening and diagnosis of Dermatophagoides pteronyssinus allergy.</p>

Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema / 中国医学科学院学报

<p><b>OBJECTIVE</b>To identify the mutation of C1 inhibitor (C1 INH) gene in a Chinese family with hereditary angioedema (HAE).</p><p><b>METHODS</b>Polymerase chain reaction and direct sequencing were used to identify the mutation type. The sequencing results were compared with the normal sequences in GenBank to find the mutation. In order to exclude the polymorphism, 30 normal volunteers were analyzed.</p><p><b>RESULTS</b>One novel mutation (17839 del C) was detected in 5 patients with HAE. The mutation was not found in controls.</p><p><b>CONCLUSION</b>The mutation of C1 INH gene (17839 del C) is identified in the family. Molecular diagnosis can be made by detecting the mutation.</p>