Immunological aspects of immunodeficiency diseases part 108

Immune 3


C1-inhibitor deficiency arises from a heterozygous mutation of C1INH gene, which acts in an autosomal dominant manner. The single normal gene cannot maintain the synthesis of physiologically sufficient quantities of C1 inhibitor. In 85% of C1-inhibitor-deficient  individuals, the mutations prevents transcription of the defectve gene, In 15% of affectedf individuals, the gene mutations abolishes the activity of the secreted protein. Rarely, autoantibodies to C1  inhibitor can lead to acquired C1-inhibitor deficiency.




About azaleaazelia

A nice person... :)
This entry was posted in Tak Berkategori. Bookmark the permalink.

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s