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The genetics of hereditary angioedema: A hypothesis
Author(s) -
Shokeir M. H. K.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01938.x
Subject(s) - hereditary angioedema , genetics , angioedema , biology , medicine , dermatology
A family with the “common” or “conventional” variety of hereditary angioedema is presented. Typical autosomal dominant transmission is clearly demonstrated, Very low levels of qualitatively normal Cl̄ esterase inhibitor (Cl̄lNH) were found among affected individuals. A hypothetical model is outlined to explain the extreme quantitative deficiency in the synthesis of the alpha‐2 neuraminoglycoprotein Cl̄lINH. A further suggestion is advanced to account for the rarer “genetic variant” type of hereditary angioedema.