Severe combined immunodeficiency due to complete RAG1/2 deficiency
ORPHA:331206DiseaseAutosomal recessiveInfancy
Ассоциированные гены2
Фенотипы (HPO)29
Очень частый (80–99%)6
HP:0002720Decreased circulating IgA level
HP:0002850Decreased circulating total IgM
HP:0004313Decreased circulating antibody level
HP:0004315Decreased circulating IgG level
HP:0010975Abnormal B cell count
HP:0011839Abnormal T cell count
Частый (30–79%)12
HP:0004429Recurrent viral infections
HP:0001508Failure to thrive
HP:0001888Lymphopenia
HP:0001945Fever
HP:0002718Recurrent bacterial infections
HP:0002743Recurrent enteroviral infections
HP:0002841Recurrent fungal infections
HP:0004385Protracted diarrhea
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0031402Reduced antigen-specific T cell proliferation
HP:0045080Decreased proportion of CD3-positive T cells
HP:0200117Recurrent upper and lower respiratory tract infections
Периодический (5–29%)11
HP:0000980Pallor
HP:0000988Skin rash
HP:0001433Hepatosplenomegaly
HP:0001873Thrombocytopenia
HP:0001880Eosinophilia
HP:0001890Autoimmune hemolytic anemia
HP:0002240Hepatomegaly
HP:0002840Lymphadenitis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002960Autoimmunity
HP:0040089Abnormal natural killer cell count
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)