DC Action visits European Society for Immunodeficiency (ESID) 2016 Meeting

The possible role of telomere disorders such as dyskeratosis congenita in primary immune deficiency-related disorders was highlighted in two presentations:

  1. Revy (Paris) described the role of RTEL1 in families with severe dyskeratosis congenita and also in pulmonary fibrosis: 9 of 47 patients in 35 families with pulmonary fibrosis carried an RTEL1 gene. Revy thought that the lung problems were a result of loss of lung stem cell function in the presence of physical stress, such as smoking.
  2. Somech (Israel) described STN1, a new gene mutation affecting older children in two families with ‘Coats plus’ syndrome, a variant of DC. Both had eye (retina) problems and both had severe stomach bleeding due to telangiectasia (tiny blood vessels which can bleed). One had benefited from thalidomide to control the bleeding. Both had blood counts suggestive of poor immune systems (low white blood cells and reduced ‘TRECS’).