Non-syndromic agammaglobulinemia
ORPHA:229717DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal
Фенотипы (HPO)28
Очень частый (80–99%)13
HP:0000246Sinusitis
HP:0000388Otitis media
HP:0000988Skin rash
HP:0001508Failure to thrive
HP:0001945Fever
HP:0002014Diarrhea
HP:0002205Recurrent respiratory infections
HP:0002721Immunodeficiency
HP:0004332Abnormal lymphocyte morphology
HP:0012378Fatigue
HP:0100533Inflammatory abnormality of the eye
HP:0100838Recurrent cutaneous abscess formation
HP:0200042Skin ulcer
Частый (30–79%)3
HP:0001874Abnormality of neutrophils
HP:0002090Pneumonia
HP:0100763Abnormality of the lymphatic system
Периодический (5–29%)12
HP:0001287Meningitis
HP:0001369Arthritis
HP:0001864Clinodactyly of the 5th toe
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0001999Abnormal facial shape
HP:0002024Malabsorption
HP:0002960Autoimmunity
HP:0004322Short stature
HP:0100658Cellulitis
HP:0100765Abnormality of the tonsils
HP:0100806Sepsis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)