Autosomal non-syndromic agammaglobulinemia
ORPHA:33110Clinical subtypeAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены10
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SPI1 | Spi-1 proto-oncogene | Disease-causing germline mutation(s) in | gene with protein product | 165170 |
| PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Disease-causing germline mutation(s) in | gene with protein product | 602839 |
| IGHM | immunoglobulin heavy constant mu | Disease-causing germline mutation(s) in | gene with protein product | 147020 |
| IGLL1 | immunoglobulin lambda like polypeptide 1 | Disease-causing germline mutation(s) in | gene with protein product | 146770 |
| LRRC8A | leucine rich repeat containing 8 VRAC subunit A | Disease-causing germline mutation(s) in | gene with protein product | 608360 |
| TCF3 | transcription factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 147141 |
| CD79A | CD79a molecule | Disease-causing germline mutation(s) in | gene with protein product | 112205 |
| CD79B | CD79b molecule | Disease-causing germline mutation(s) in | gene with protein product | 147245 |
| BLNK | B cell linker | Disease-causing germline mutation(s) in | gene with protein product | 604515 |
| PIK3R1 | phosphoinositide-3-kinase regulatory subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 171833 |
Фенотипы (HPO)29
Очень частый (80–99%)13
HP:0000246Sinusitis
HP:0000389Chronic otitis media
HP:0000509Conjunctivitis
HP:0000988Skin rash
HP:0001581Recurrent skin infections
HP:0001945Fever
HP:0002014Diarrhea
HP:0002205Recurrent respiratory infections
HP:0002719Recurrent infections
HP:0002721Immunodeficiency
HP:0004432Agammaglobulinemia
HP:0012378Fatigue
HP:0012735Cough
Частый (30–79%)3
HP:0001369Arthritis
HP:0001508Failure to thrive
HP:0002754Osteomyelitis
Периодический (5–29%)13
HP:0000218High palate
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0001287Meningitis
HP:0001875Decreased total neutrophil count
HP:0001944Dehydration
HP:0002024Malabsorption
HP:0002110Bronchiectasis
HP:0012115Hepatitis
HP:0100658Cellulitis
HP:0100806Sepsis
HP:0200043Verrucae
HP:0000377Abnormal pinna morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)