General Information of Disease (ID: DISFRKM4)

Disease Name T-B+ severe combined immunodeficiency
Synonyms T-cell negative B-cell positive SCID; T-B+ SCID
Definition
T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.|Editor note: add logical definition
Disease Hierarchy
DIS6MF4Q: Severe combined immunodeficiency
DISFRKM4: T-B+ severe combined immunodeficiency
Disease Identifiers
MONDO ID
MONDO_0044200
UMLS CUI
C5679894
MedGen ID
1842847
Orphanet ID
317416