FB2025_05 , released December 11, 2025

General Information
Term	immunodeficiency 27A	ID (Ontology)	DOID:0111955 (Human Disease)
Definition	A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
Also Known As	"autosomal recessive IFNGR1 deficiency" ; "autosomal recessive immunodeficiency 27A, mycobacteriosis" ; "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" (for all, see Synonyms field below)
Comment
Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available

General Information

Term

immunodeficiency 27A

ID (Ontology)

DOID:0111955 (Human Disease)

Definition

A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.

Also Known As

"autosomal recessive IFNGR1 deficiency" ; "autosomal recessive immunodeficiency 27A, mycobacteriosis" ; "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" (for all, see Synonyms field below)

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

No relevant statements available

autosomal genetic disease |__autosomal recessive disease_______ immune system disease | |__primary immunodeficiency disease__| immunodeficiency 27A

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Is a	autosomal recessive disease primary immunodeficiency disease
Part of
Synonyms & Secondary IDs
Synonyms
	"autosomal recessive IFNGR1 deficiency" EXACT "autosomal recessive immunodeficiency 27A, mycobacteriosis" EXACT "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT "IMD27A" EXACT OMO:0003012
Secondary IDs

External Crossreferences & Linkouts
	MESH:C535530 MIM:209950 ORDO:319569

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Parents/Children
View Depth

Relationships

Is a

autosomal recessive disease
primary immunodeficiency disease

Part of

Synonyms & Secondary IDs

Synonyms

"autosomal recessive IFNGR1 deficiency" EXACT
"autosomal recessive immunodeficiency 27A, mycobacteriosis" EXACT
"autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT
"autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT
"autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT
"autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT
"IMD27A" EXACT OMO:0003012

Secondary IDs

External Crossreferences & Linkouts

MESH:C535530
MIM:209950
ORDO:319569