ea0037gp.01.08 | Adrenal | ECE2015
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, ...