Details of Disease | DrugMAP

General Information of Disease (ID: DIS9R0SM)

Disease Name	Immunodeficiency 49
Synonyms	SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities; severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities; immunodeficiency type 49; IMD49; immunodeficiency 49; IMD49; BCL11B primary immunodeficiency disease; primary immunodeficiency disease caused by mutation in BCL11B; immunodeficiency 49
Definition	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.
Disease Hierarchy	DIS8RTG7: Familial severe combined immunodeficiency DISNGCMN: Inborn error of immunity DIS9R0SM: Immunodeficiency 49
Disease Identifiers	MONDO ID MONDO_0014981 UMLS CUI C4310656 OMIM ID 617237 MedGen ID 934623

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCL11B	OT8KKCVJ	Strong	Autosomal dominant	[1]
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References

1	BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173.