Article
Transmission patterns of C1-INH deficiency hereditary angioedema favors a wild-type male offspring: Our experience at Chandigarh, India.
Immunobiology - 1 Mar 2024
Machhua Sanghamitra, Kumar Jindal Ankur, Basu Suprit, Jangra Isheeta, Barman Prabal, Tyagi Rahul, Sil Archan, Tyagi Reva, Kaur Anit, Chawla Sanchi, Kumaran Sendhil M, Dogra Sunil, Dhaliwal Manpreet, Sharma Saniya, Rawat Amit, Singh Surjit
Abstract excerpt
BACKGROUND: Deficiency of C1-inhibitor (C1-INH) protein, caused by pathogenic variants in the Serpin family G member 1 (SERPING1) gene, is the commonest pathophysiological abnormality (in ∼95 % cases) in patients with hereditary angioedema (HAE). C1-INH protein provides negative control over kallikrein-kinin system (KKS). Although the inheritance of the HAE-C1-INH is autosomal dominant, female predominance has...
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