Activated PI3K-delta syndrome 2
ORPHA:693681DiseaseAutosomal dominant
Ассоциированные гены1
Фенотипы (HPO)21
Частый (30–79%)12
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001744Splenomegaly
HP:0002110Bronchiectasis
HP:0002205Recurrent respiratory infections
HP:0002716Lymphadenopathy
HP:0002720Decreased circulating IgA level
HP:0004322Short stature
HP:0005387Combined immunodeficiency
HP:0008348Decreased circulating IgG2 level
HP:0010976Decreased total B cell count
HP:0011956Intestinal lymphoid nodular hyperplasia
Периодический (5–29%)9
HP:0000509Conjunctivitis
HP:0002014Diarrhea
HP:0002024Malabsorption
HP:0002240Hepatomegaly
HP:0002960Autoimmunity
HP:0005411Chronic intestinal candidiasis
HP:0032163Molluscum contagiosum
HP:0032204Chronic active Epstein-Barr virus infection
HP:0032247Persistent CMV viremia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)