FB2025_05 , released December 11, 2025

General Information
Term	severe combined immunodeficiency 104	ID (Ontology)	DOID:0090014 (Human Disease)
Definition	A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.
Also Known As	"autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" ; "interleukin-7 receptor alpha deficiency" ; "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive"
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

severe combined immunodeficiency 104

ID (Ontology)

DOID:0090014 (Human Disease)

Definition

A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.

Also Known As

"autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" ; "interleukin-7 receptor alpha deficiency" ; "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive"

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_______ combined immunodeficiency | |__severe combined immunodeficiency__| severe combined immunodeficiency 104

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Is a	autosomal recessive disease severe combined immunodeficiency
Part of
Synonyms & Secondary IDs
Synonyms
	"autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT "interleukin-7 receptor alpha deficiency" EXACT "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive" EXACT
Secondary IDs

External Crossreferences & Linkouts
	ICD10CM:D81.2 MESH:C563822 MIM:608971 ORDO:169154

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Parents/Children
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Is a

autosomal recessive disease
severe combined immunodeficiency

Part of

Synonyms & Secondary IDs

Synonyms

"autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT
"interleukin-7 receptor alpha deficiency" EXACT
"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive" EXACT

Secondary IDs

External Crossreferences & Linkouts

ICD10CM:D81.2
MESH:C563822
MIM:608971
ORDO:169154