Rare Genetic Variations in KNG1, XPNPEP1 Linked to HAE With Normal C1-INH

Rare Genetic Variations in KNG1, XPNPEP1 Linked to HAE With Normal C1-INH

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Rare Genetic Variations in KNG1, XPNPEP1 Linked to HAE With Normal C1-INH

Variations in the genes KNG1 and XPNPEP1 may be associated with hereditary angioedema (HAE) that occurs in people without any of the mutations that typically cause the disease, a new study suggests. The preliminary findings highlight the genetic complexity of HAE, researchers said. The study, “Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor,” was published in the Journal of Clinical Medicine. The classical HAE types — known as types 1 and 2 — are…

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