Activated PI3K-delta syndrome 1
ORPHA:693661DiseaseAutosomal dominant
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)1
HP:0002205Recurrent respiratory infections
Частый (30–79%)7
HP:0001744Splenomegaly
HP:0002110Bronchiectasis
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
HP:0002960Autoimmunity
HP:0010976Decreased total B cell count
HP:0011956Intestinal lymphoid nodular hyperplasia
Периодический (5–29%)13
HP:0000509Conjunctivitis
HP:0000620Dacryocystitis
HP:0001263Global developmental delay
HP:0002014Diarrhea
HP:0002024Malabsorption
HP:0004322Short stature
HP:0005401Recurrent candida infections
HP:0011110Recurrent tonsillitis
HP:0020114Persistent human papillomavirus infection
HP:0032163Molluscum contagiosum
HP:0032204Chronic active Epstein-Barr virus infection
HP:0032247Persistent CMV viremia
HP:0200043Verrucae
Очень редкий (1–4%)1
HP:0031699Disseminated cryptosporidium infection
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)