Activated PI3K-delta syndrome
ORPHA:397596Clinical groupAutosomal dominantAdult, Childhood, Infancy
Фенотипы (HPO)24
Очень частый (80–99%)2
HP:0002090Pneumonia
HP:0200117Recurrent upper and lower respiratory tract infections
Частый (30–79%)11
HP:0000403Recurrent otitis media
HP:0001744Splenomegaly
HP:0002110Bronchiectasis
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
HP:0002960Autoimmunity
HP:0003496Increased circulating IgM level
HP:0004313Decreased circulating antibody level
HP:0010976Decreased total B cell count
HP:0011109Chronic sinusitis
HP:0011956Intestinal lymphoid nodular hyperplasia
Периодический (5–29%)11
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0001369Arthritis
HP:0001508Failure to thrive
HP:0002242Abnormal intestine morphology
HP:0002665Lymphoma
HP:0011110Recurrent tonsillitis
HP:0012758Neurodevelopmental delay
HP:0031692Severe cytomegalovirus infection
HP:0031693Severe Epstein Barr virus infection
HP:0032170Severe varicella zoster infection
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 250 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)