X-linked agammaglobulinemia
ORPHA:47Clinical subtypeX-linked recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)17
HP:0000162Glossoptosis
HP:0000246Sinusitis
HP:0000389Chronic otitis media
HP:0000509Conjunctivitis
HP:0000988Skin rash
HP:0001508Failure to thrive
HP:0001945Fever
HP:0002028Chronic diarrhea
HP:0002721Immunodeficiency
HP:0004322Short stature
HP:0004432Agammaglobulinemia
HP:0006532Recurrent pneumonia
HP:0012378Fatigue
HP:0100763Abnormality of the lymphatic system
HP:0100765Abnormality of the tonsils
HP:0100838Recurrent cutaneous abscess formation
HP:0200042Skin ulcer
Частый (30–79%)8
HP:0000407Sensorineural hearing impairment
HP:0001287Meningitis
HP:0001369Arthritis
HP:0001875Decreased total neutrophil count
HP:0002088Abnormal lung morphology
HP:0002901Hypocalcemia
HP:0100658Cellulitis
HP:0100806Sepsis
Периодический (5–29%)10
HP:0001053Hypopigmented skin patches
HP:0001596Alopecia
HP:0001824Weight loss
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0002024Malabsorption
HP:0002664Neoplasm
HP:0002754Osteomyelitis
HP:0002960Autoimmunity
HP:0012115Hepatitis
Эпидемиология19
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.22 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.18 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.21 | Italy | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.08 | United Kingdom | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.06 | Spain | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.03 | Germany | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.09 | Poland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.13 | Croatia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.16 | Hungary | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.25 | North Macedonia | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Slovenia | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.09 | Serbia | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.04 | Ukraine | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.06 | Belarus | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.03 | Romania | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 | United States | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.07 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.11 | Korea, Republic of | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)