부산대학교 도서관

Activated PI3K delta syndrome (APDS) is a primary immunodeficiency syndrome associated with the development of pneumonia, bronchiectasis, lymphocytopenia, herpes virus infection including Epstein-Barr virus (EBV) infection, middle ear infection, sinusitis, lymphoproliferative disorder (LPD) and malignant lymphoma. We report the case of a female patient with APDS. She needed to be hospitalized for EBV infection at the age of 1 year. Thereafter, she suffered from recurrent fever, eruption, arthritis, gastroenteritis, middle ear infection pharyngitis and LPD. Due to the airway distress caused by LPD, she underwent tracheostomy, palatine tonsillectomy and lingual tonsillectomy at the age of 37 years. Further examination revealed a high concentration of serum EA-IgG and EBV positive cells in the tonsils, and she was diagnosed as having EBV-associated lymphoproliferative disorders. She developed malignant lymphoma at the age of 38 years and received chemotherapy; however, the treatment failed to have effect. She underwent umbilical cord blood transplantation, after which her general condition deteriorated rapidly and she died from disseminated intravascular coagulation. She was diagnosed as having APDS by genetic screening.