Details of Disease | DrugMAP

General Information of Disease (ID: DIS7ZWZK)

Disease Name	Immunodeficiency 27A
Synonyms	atypical mycobacteriosis, familial; atypical mycobacterial infection, familial disseminated; mycobacterial disease, Mendelian susceptibility to; atypical mycobacterial infection, disseminated; IFNGR1 deficiency, autosomal recessive; immunodeficiency 27A, Mycobacteriosis, autosomal recessive; IMD27A; immunodeficiency type 27A; immunodeficiency 27A; immunodeficiency 27A, mycobacteriosis, AR
Disease Hierarchy	DIS33M7J: Inherited susceptibility to mycobacterial diseases DIS7ZWZK: Immunodeficiency 27A
Disease Identifiers	MONDO ID MONDO_0008856 MESH ID C535530 UMLS CUI C4011949 OMIM ID 209950 MedGen ID 860386 SNOMED CT ID 718230004

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
IFNGR1	OTCTQBWW	Strong	Autosomal recessive	[1]
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References

1	In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest. 2000 May;105(10):1429-36. doi: 10.1172/JCI9166.