Paternal gonadal mosaicism as cause of a puzzling inheritance pattern of activated PI3-kinase delta syndrome

Birth defects caused by de novo chromosomal abnormalities resulting in single-gene defects occur in approximately 5% of all live births.1 Affected offspring have a broad range of illnesses, including primary immunodeficiency diseases, a genetically heterogeneous group of disorders presenting with a clinical spectrum of mild to severe infections, often complicated by autoimmunity and malignancies.2 Most primary immunodeficiency diseases are monogenic diseases with a Mendelian inheritance pattern.

http://ift.tt/2i8A706