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Immunodeficiency due to a late component of complement deficiency

ORPHA:169150DiseaseAutosomal recessive

Ассоциированные гены (7)

C5
complement C5
Disease-causing germline mutation(s) in
OMIM: 120900
C6
complement C6
Disease-causing germline mutation(s) in
OMIM: 217050
C7
complement C7
Disease-causing germline mutation(s) in
OMIM: 217070
C8A
complement C8 alpha chain
Disease-causing germline mutation(s) in
OMIM: 120950
C8B
complement C8 beta chain
Disease-causing germline mutation(s) in
OMIM: 120960
C8G
complement C8 gamma chain
Disease-causing germline mutation(s) in
OMIM: 120930
C9
complement C9
Disease-causing germline mutation(s) in
OMIM: 120940

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы