Details of Disease | DrugMAP

General Information of Disease (ID: DIS0J4KF)

Disease Name	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Synonyms	immunodeficiency 20; IMD20; CD16 deficiency; immunodeficiency type 20; autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
Disease Hierarchy	DISNGCMN: Inborn error of immunity DIS0J4KF: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Disease Identifiers	MONDO ID MONDO_0014313 UMLS CUI C3810342 OMIM ID 615707 MedGen ID 816672 Orphanet ID 437552

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
FCGR3A	TTIFOC0	Supportive	Autosomal recessive	[1]
FCGR3A	TTIFOC0	moderate	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FCGR3A	OTOWXCF3	Supportive	Autosomal recessive	[1]
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References

1	Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity. J Clin Invest. 2012 Oct;122(10):3769-80. doi: 10.1172/JCI64837. Epub 2012 Sep 24.