Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

ORPHA:238569DiseaseAutosomal recessiveInfancy, Neonatal

Ассоциированные гены (3)

interleukin 10

Disease-causing germline mutation(s) (loss of function) in

interleukin 10 receptor subunit alpha

Disease-causing germline mutation(s) (loss of function) in

interleukin 10 receptor subunit beta

Disease-causing germline mutation(s) (loss of function) in

Эпидемиология (2)

Cases/families

—

Worldwide

Point prevalence

<1 / 1 000 000

Worldwide

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)

ORPHA:238569DiseaseAutosomal recessiveInfancy, Neonatal

Ген	Полное название	Тип связи	Тип гена	OMIM
IL10	interleukin 10	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	124092
IL10RA	interleukin 10 receptor subunit alpha	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	146933
IL10RB	interleukin 10 receptor subunit beta	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	123889

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Cases/families	—	80	Worldwide	Case(s)
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)