T-B+ severe combined immunodeficiency due to JAK3 deficiency
ORPHA:35078DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)4
HP:0003347Impaired lymphocyte transformation with phytohemagglutinin
HP:0005354Lack of T cell function
HP:0005403Decreased total T cell count
HP:0031381Decreased lymphocyte proliferation in response to mitogen
Частый (30–79%)6
HP:0001888Lymphopenia
HP:0002028Chronic diarrhea
HP:0002205Recurrent respiratory infections
HP:0005390Recurrent opportunistic infections
HP:0009098Chronic oral candidiasis
HP:0040219Absent natural killer cells
Периодический (5–29%)10
HP:0000371Acute otitis media
HP:0001531Failure to thrive in infancy
HP:0002850Decreased circulating total IgM
HP:0004315Decreased circulating IgG level
HP:0004429Recurrent viral infections
HP:0004798Recurrent infection of the gastrointestinal tract
HP:0006532Recurrent pneumonia
HP:0010976Decreased total B cell count
HP:0011837Partial IgA deficiency
HP:0200039Pustule
Очень редкий (1–4%)5
HP:0000143Rectovaginal fistula
HP:0000953Hyperpigmentation of the skin
HP:0000988Skin rash
HP:0001433Hepatosplenomegaly
HP:0001999Abnormal facial shape
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)