Immunodeficiency due to selective anti-polysaccharide antibody deficiency
ORPHA:70593DiseaseMultigenic/multifactorialAdolescent, Adult, Childhood
Фенотипы (HPO)19
Очень частый (80–99%)5
HP:0002848Specific anti-polysaccharide antibody deficiency
HP:0410299Decreased specific antibody response to polysaccharide vaccine
HP:0410300Complete or near-complete absence of specific antibody response to pneumococcus vaccine
HP:0410302Decreased specific antibody response to protein-conjugated polysaccharide vaccine
HP:0410303Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
Частый (30–79%)6
HP:0000246Sinusitis
HP:0000388Otitis media
HP:0012384Rhinitis
HP:0030374Decreased proportion of memory B cells
HP:0031949Recurrent bacterial upper respiratory tract infections
HP:0200117Recurrent upper and lower respiratory tract infections
Периодический (5–29%)4
HP:0001047Atopic dermatitis
HP:0002099Asthma
HP:0007274Recurrent bacterial meningitis
HP:0010976Decreased total B cell count
Исключён (0%)4
HP:0410240Abnormal IgA level
HP:0410242Abnormal IgG level
HP:0410243Abnormal IgM level
HP:0410295Complete or near-complete absence of specific antibody response to tetanus vaccine
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)