FB2025_05 , released December 11, 2025

General Information
Term	immunodeficiency 27B	ID (Ontology)	DOID:0111956 (Human Disease)
Definition	A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
Also Known As	"autosomal dominant IFNGR1 deficiency" ; "autosomal dominant immunodeficiency 27B, mycobacteriosis" ; "autosomal dominant 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 27B

ID (Ontology)

DOID:0111956 (Human Disease)

Definition

A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.

Also Known As

"autosomal dominant IFNGR1 deficiency" ; "autosomal dominant immunodeficiency 27B, mycobacteriosis" ; "autosomal dominant 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 dominant disease________ immune system disease | |__primary immunodeficiency disease__| immunodeficiency 27B

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	autosomal dominant disease primary immunodeficiency disease
Part of
Synonyms & Secondary IDs
Synonyms
	"autosomal dominant IFNGR1 deficiency" EXACT "autosomal dominant immunodeficiency 27B, mycobacteriosis" EXACT "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT "IMD27B" EXACT OMO:0003012
Secondary IDs

External Crossreferences & Linkouts
	MIM:615978 ORDO:319581

Spanning Tree View Settings

Parents/Children
View Depth

Relationships

Is a

autosomal dominant disease
primary immunodeficiency disease

Part of

Synonyms & Secondary IDs

Synonyms

"autosomal dominant IFNGR1 deficiency" EXACT
"autosomal dominant immunodeficiency 27B, mycobacteriosis" EXACT
"autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT
"autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT
"autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT
"autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT
"IMD27B" EXACT OMO:0003012

Secondary IDs

External Crossreferences & Linkouts

MIM:615978
ORDO:319581