T-B+ severe combined immunodeficiency due to gamma chain deficiency
ORPHA:276DiseaseX-linked recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)8
HP:0032218Decreased proportion of CD4-positive T cells
HP:0001888Lymphopenia
HP:0001954Recurrent fever
HP:0002090Pneumonia
HP:0010701Abnormal immunoglobulin level
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0031397Reduced proportion of naive T cells
HP:0040218Reduced natural killer cell count
Частый (30–79%)10
HP:0000988Skin rash
HP:0002014Diarrhea
HP:0002718Recurrent bacterial infections
HP:0002720Decreased circulating IgA level
HP:0004315Decreased circulating IgG level
HP:0005390Recurrent opportunistic infections
HP:0012735Cough
HP:0031545Abnormally low T cell receptor excision circle level
HP:0045080Decreased proportion of CD3-positive T cells
HP:0100806Sepsis
Периодический (5–29%)10
HP:0001508Failure to thrive
HP:0002728Chronic mucocutaneous candidiasis
HP:0002732Lymph node hypoplasia
HP:0005353Recurrent herpes
HP:0005376Recurrent Haemophilus influenzae infections
HP:0005406Recurrent bacterial skin infections
HP:0005428Severe recurrent varicella
HP:0009098Chronic oral candidiasis
HP:0011370Recurrent cutaneous fungal infections
HP:0030813Absent tonsils
Очень редкий (1–4%)5
HP:0000952Jaundice
HP:0002240Hepatomegaly
HP:0002665Lymphoma
HP:0003237Increased circulating IgG level
HP:0005523Lymphoproliferative disorder
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)