Article
A de novo deletion in the C1 inhibitor gene in a case of sporadic hereditary angioneurotic edema.
Clinical immunology and immunopathology - 1 Oct 1993
Ariga T, Hoshioka A, Kohno Y, Sakamaki T, Matsumoto S
Abstract excerpt
A sporadic case of hereditary angioneurotic edema (HANE) is reported here. The patient was a 15-year-old girl who for 4 years had suffered recurrent episodes of urticaria-like erythema, followed by vomiting with abdominal pain. She was diagnosed as having Sjögren syndrome by results of sialography and serological studies, and moreover, it was also observed that the C1 inhibitor (C1-INH) activity in her plasma was...
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