Interferonopathies

Course Description The objectives are to be able to consider interferonopathies in the appropriate context of progressive or static encephalopathies, to learn about their pathogenesis, and possibilities of treatment.

Learning Objectives

1. Think of a particular group of disorders with variable age of onset and severity, but typical constellation of symptoms.
2. Start the work-up or where to refer if needed.

Impact Statements

1. Considering a hereditary disorder in the differential diagnosis of intrauterine infections, cerebral calcifications, or hereditary paraparesis.
2. Including recessive interferon pathway disorders in any child with slowly progressive or static neurological deficits, particularly when more than one offspring is affected in the family albeit at different degrees.

Organizer: Banu Anlar, MD; Hacettepe University, Ankara, Turkey

Case Presentations Illustrating the Clinical Spectrum
Banu Anlar, MD

Molecular Pathogenesis and Treatment Targets
Adeline Vanderver, MD; Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Discussion & Questions