immunodeficiency 14

Term ID

DOID:0111936

Synonyms

• activated PI3K-delta syndrome
• APDS
• IMD14
• PASLI disease
• senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation

Definition

A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. (2)

References

• GARD:11983
• MESH:C585640
• NCI:C187988
• OMIM:615513
• ORDO:397596
• SNOMEDCT_US_2023_03_01:711480000
• UMLS_CUI:C3714976

Ontology

Human Disease   ( DOID:0111936 )