Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
Ankur Kumar JindalSurjit Singh

Abstract

There is paucity of literature on long-term follow-up of patients with hereditary angioedema (HAE) from developing countries. This study was carried out to analyze the clinical manifestations, laboratory features, and genetic profile of 32 patients (21 male and 11 female) from 23 families diagnosed with HAE between January 1996 and December 2019. Data were retrieved from medical records of Paediatric Immunodeficiency Clinic, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Median age at onset of symptoms was 6.25 years (range 1-25 years), and median age at diagnosis was 12 years (range 2-43 years). Serum complement C4 level was decreased in all patients. All patients had low C1-esterase inhibitor (C1-INH) quantitative level (type 1 HAE). SERPING1 gene sequencing could be carried out in 20 families. Of these, 11 were identified to have a pathogenic disease-causing variant in the SERPING1 gene. While 2 of these families had a previously reported mutation, remaining 9 families had novel pathogenic variants in SERPING1 gene. Because of non-availability of C1-INH therapy in India, all patients were given long-term prophylaxis (attenuated androgens or tranexamic acid (TA) or a combination of the 2). Life-t...Continue Reading

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Citations

May 19, 2021·Clinical Reviews in Allergy & Immunology·Ankur Kumar JindalUNKNOWN GEHM workgroup (Global Equity in HAE Management)

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