T-B+ severe combined immunodeficiency

Summary

T-B+ severe combined immunodeficiency (MONDO:0044200) is a disease (an umbrella term covering 10 Mondo subtypes). A subtype of severe combined immunodeficiency — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 10 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	T-B+ severe combined immunodeficiency
Mondo ID	MONDO:0044200
Orphanet	317416
UMLS	C5679894
MedGen	1842847
GARD	0021405
Is cancer (heuristic)	no

Also known as: T-B+ SCID · T-cell negative B-cell positive SCID

Disease family

This is a subtype of severe combined immunodeficiency. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › immunodeficiency disease › combined immunodeficiency › severe combined immunodeficiency › T-B+ severe combined immunodeficiency

Related subtypes (10): recombinase activating gene 1 deficiency, recombinase activating gene 2 deficiency, janus kinase-3 deficiency, T-cell immunodeficiency, congenital alopecia, and nail dystrophy, T-B- severe combined immunodeficiency, severe combined immunodeficiency due to CARMIL2 deficiency, immunodeficiency 79, familial severe combined immunodeficiency, severe combined immunodeficiency due to CD70 deficiency, T+ B+ severe combined immunodeficiency

Subtypes (10): T-B+ severe combined immunodeficiency due to gamma chain deficiency, combined immunodeficiency, X-linked, T-B+ severe combined immunodeficiency due to JAK3 deficiency, immunodeficiency 104, lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome, severe combined immunodeficiency due to CORO1A deficiency, T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency, T-B+ severe combined immunodeficiency due to CD45 deficiency, T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta, severe combined immunodeficiency due to LAT deficiency

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.