RIDDLE syndrome
Related gene: TNF168
Inheritance pattern: Autosomal recessive
RIDDLE is short for radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties. It is an autosomal recessive disorder, in which individuals have difficulty repairing DNA damage sustained by the cells. Individuals can have recurrent sinopulmonary infections due to low production of immunoglobulin and may require immunoglobulin (Ig) replacement therapy. They also share a high risk of developing cancer during their lifetime.
