T-cell immunodeficiency with thymic aplasia
ORPHA:83471DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Облигатный (100%)1
HP:0005359Aplasia of the thymus
Очень частый (80–99%)6
HP:0002719Recurrent infections
HP:0005352Severe T-cell immunodeficiency
HP:0005374Cellular immunodeficiency
HP:0005403Decreased total T cell count
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0031397Reduced proportion of naive T cells
Частый (30–79%)8
HP:0001508Failure to thrive
HP:0002090Pneumonia
HP:0002718Recurrent bacterial infections
HP:0002960Autoimmunity
HP:0004798Recurrent infection of the gastrointestinal tract
HP:0031690Opportunistic infection
HP:0031691Severe viral infection
HP:0032169Severe infection
Периодический (5–29%)21
HP:0000964Eczematoid dermatitis
HP:0000010Recurrent urinary tract infections
HP:0000246Sinusitis
HP:0000389Chronic otitis media
HP:0000821Hypothyroidism
HP:0001287Meningitis
HP:0002014Diarrhea
HP:0002024Malabsorption
HP:0002716Lymphadenopathy
HP:0002726Recurrent Staphylococcus aureus infections
HP:0003472Hypocalcemic tetany
HP:0004844Coombs-positive hemolytic anemia
HP:0005366Recurrent streptococcus pneumoniae infections
HP:0005387Combined immunodeficiency
HP:0005401Recurrent candida infections
HP:0009098Chronic oral candidiasis
HP:0020101Invasive fungal infection
HP:0031430Oligoclonal T cell expansion
HP:0100646Thyroiditis
HP:0100806Sepsis
HP:0200122Atypical or prolonged hepatitis
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)