Advances in the Pathogenesis of Hereditary Angioedema.

Hereditary angioedema (HAE) is a rare,unpredictable,autosomal dominant disorder characterized by recurrent swelling in subcutaneous and submucosal tissue.In recent years,the pathophysiology and pathogenesis of HAE have been continuously studied and elucidated.In addition to the genes encoding complement 1 esterase inhibitors,new pathogenic variants have been identified in the genes encoding coagulation factor Ⅻ,plasminogen,angiopoietin-1,kininogen,heparan sulfate 3-O-sulfotransferase 6,and myoferlin in HAE.

Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene.

Background: Hereditary angioedema with deficient and dysfunctional C1 inhibitor (C1-INH-HAE) is a rare genetic disorder. The majority of the cases with this disease are caused by mutations in the C1-inbitor gene SERPING1 and are classified as type 1 and type 2. We aimed to detect mutations in the SERPING1 gene and evaluate its expression in nine probands with hereditary angioedema from nine different families.

Upper airway edema in 43 patients with hereditary angioedema.

Background: Upper airway edema (UAE) occurs infrequently in hereditary angioedema (HAE), but still results in significant morbidity and mortality.

Objective: To assess patients with HAE and UAE to determine whether unique features exist that can predict the risk of UAE.

Methods: Clinical, laboratory, and genetic data were compared between 43 patients with HAE and 743 UAE attacks and those without UAE and normal controls after ethics committee approval.

Clinical features of hereditary angioedema in Chinese patients: new findings and differences from other populations.

Background: Hereditary angioedema (HAE), caused by C1 inhibitor deficiency, is characterized by recurrent subcutaneous or submucosal swelling. Because it is rare, data on clinical features, especially in Chinese patients, are not comprehensive.

Objective: Our aim was to identify the characteristics of HAE in a Chinese population and enhance clinical knowledge of this disease.

Recent advances in the management of hereditary angioedema.

Hereditary angioedema (HAE) is a rare genetic condition that manifests as painful and potentially life-threatening episodic attacks of cutaneous and submucosal swelling. It results from functional deficiency of C1 inhibitor (C1 INH), which is a regulator of the complement, fibrinolytic, kinin (contact), and coagulation systems. In patients with HAE, the low plasma concentration of functional C1 INH leads to overactivation of the kinin cascade and local release of bradykinin.

Comparison and evaluation of several Dermatophagoides pteronyssinus allergen extracts for skin prick test.

Objective: To evaluate the significance of several Dermatophagoides pteronyssinus allergen extracts for skin prick test (SPT) in patients allergic to Dermatophagoides pteronyssinus.

Methods: 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).

[Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema].

Objective: To identify the mutation of C1 inhibitor (C1 INH) gene in a Chinese family with hereditary angioedema (HAE).

Methods: 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.