Details of Disease | DrugMAP

General Information of Disease (ID: DIS8XY0I)

Disease Name	Immunodeficiency 15a
Synonyms	IMD15A; IMMUNODEFICIENCY 15A
Disease Hierarchy	DIS093I0: Immunodeficiency DIS8XY0I: Immunodeficiency 15a
Disease Identifiers	MONDO ID MONDO_0032599 UMLS CUI C4748694 OMIM ID 618204 MedGen ID 1648385

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IKBKB	TTJ3E9X	Strong	Autosomal dominant	[1]
IKBKB	TTJ3E9X	Strong	CausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IKBKB	OT9RDS3H	Strong	Autosomal dominant	[1]
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References

1	Gain-of-function IKBKB mutation causes human combined immune deficiency. J Exp Med. 2018 Nov 5;215(11):2715-2724. doi: 10.1084/jem.20180639. Epub 2018 Oct 18.