Searchable abstracts of presentations at key conferences in endocrinology

ea0037gp.01.08 | Adrenal | ECE2015

Autoimmune polyendocrine syndrome in India: clinical aspects, AIRE mutations, and functional analysis

Bhatia Eesh , Zaidi Ghazala , Sarangi Aditya , Bhatia Vijayalakshmi , Bharani Nisha , Sachan Alok , Zhang Li , Yu Liping , Jain Vandana , Sahu Saroj , Srivastava Rashmi , Bharti Niharika , Aggarwal Rakesh , Aggarwal Amita

Introduction: Autoimmune polyendocrine syndrome 1 (APS1) is an uncommon, serious autosomal recessive disorder, due to AIRE gene mutations which result in impaired central tolerance. India has a complex genetic structure and also communities with high prevalence of consanguinity, which may result in varied clinical manifestations and genetic mutations.Aims: To study clinical features, interferon-α antibodies (IFNA), AIRE mutations, ...