Genetics Working Party

The 17-18^th of October ERN RITA molecular testing WG in collaboration with the ESID WP of Genetics organised the second 2-day workshop on Human Phenotype Ontology (HPO) for immune mediated diseases.

The workshop was hosted by Kaan Boztug, Julia Pazmandi and Matthias Haimel, from the Ludwig Boltzmann Institute for Rare and Undiagnosed diseases, St. Anna Children’s Cancer Research Institute in Vienna.

HPO provides a standardized vocabulary to describe phenotypic (clinical) abnormalities observed in human diseases. However to date, rare diseases of the immune system lack a complete and accurate description using standardised clinical terms. An accurate vocabulary of phenotypic description helps to separate similar disease subtypes and provide patients with the correct treatment. The initiative started with the first HPO workshop in Vienna last year and aims to fill this gap in order to provide a revised and complete phenotype ontology for immunodeficiencies.

Over the two days, more than 20 experts from the fields of bioinformatics, medicine, immunology, and genetics worked together to further expand the description for different immune mediated disorders in HPO.

There are currently 4 groups working on HPO terms addressing the IUIS based subgroups of immunodeficiencies affecting cellular and humoral immunity; autoinflammatory diseases; diseases of immune dysregulation and predominantly antibody deficiency. If you would like to join a group or start working on a different IUIS subgroup, please let us know.

Anne Puel
Genetics Working Party Chair