Combined immunodeficiency due to ZAP70 deficiency
ORPHA:911DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)4
HP:0002718Recurrent bacterial infections
HP:0004429Recurrent viral infections
HP:0005390Recurrent opportunistic infections
HP:0031381Decreased lymphocyte proliferation in response to mitogen
Частый (30–79%)8
HP:0001508Failure to thrive
HP:0002028Chronic diarrhea
HP:0002090Pneumonia
HP:0004798Recurrent infection of the gastrointestinal tract
HP:0005415Decreased proportion of CD8-positive T cells
HP:0005422Absence of CD8-positive T cells
HP:0009098Chronic oral candidiasis
HP:0200117Recurrent upper and lower respiratory tract infections
Периодический (5–29%)14
HP:0000100Nephrotic syndrome
HP:0000988Skin rash
HP:0001297Stroke
HP:0001433Hepatosplenomegaly
HP:0001880Eosinophilia
HP:0002583Colitis
HP:0002716Lymphadenopathy
HP:0002728Chronic mucocutaneous candidiasis
HP:0002733Abnormality of the lymph nodes
HP:0002840Lymphadenitis
HP:0005406Recurrent bacterial skin infections
HP:0010280Stomatitis
HP:0011274Recurrent mycobacterial infections
HP:0100827Lymphocytosis
Очень редкий (1–4%)4
HP:0001890Autoimmune hemolytic anemia
HP:0001973Autoimmune thrombocytopenia
HP:0002665Lymphoma
HP:0005523Lymphoproliferative disorder
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)