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.

 

 

 

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