ea0034p136 | Clinical practice/governance and case reports | SFEBES2014
Thomas Nihal
, Mahesh D M
, Chapla Aaron
, Asha H S
, Shetty Shrinath
, Shetty Sahana
, Lydia M
, George Renu
Background: The H-syndrome is a recently described very rare monogenic systemic autoinflammatory autosomal-recessive genodermatosis with young onset of diabetes without evidence of autoimmunity. It is caused by mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3.Objectives: To study the clinical features and confirm the genetic diagnosis in a subject with young onset of diabetes.Subject and m...