Immunological and genetic studies on hereditary angioedema.
Ca. eighty patients with hereditary angioedema due to C1-inhibitor deficiency were diagnosed and treated in Poland during last the 15 yrs, mainly in centers from Warsaw, Cracow and Bydgoszcz. The detailed description concerns 17 patients, 14 females (82%) and 3 males (18%). Important diagnostic points, response to treatment, and critical serum values of C1-inhibitor were evaluated. In the experimental part, we have established fibroblasts cell lines from 5 patients with type I HAE, with characteristic profound deficits of C1-INH (antigenic and functional) and C4. Fibroblasts from all the patients synthesized only ca. 20% of the normal values of C1-INH. We have confirmed the data from other authors that C1-INH synthesis can be substantially increased (11 to 20-fold) by IFN-gamma at a pretranslational level.
Madaliński
K
K
Department of Clinical Immunology, Child Health Center, Warszawa.
Chorazykiewicz
M
M
Prokopowicz
K
K
Kramer
J
J
Zychowicz
C
C
D000328:Adult; D000799:Angioedema / Q000235:genetics / Q000276:immunology / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003172:Complement C1 / Q000096:biosynthesis / Q000172:deficiency*; D005260:Female; D006801:Humans; D008297:Male
D003172:Complement C1