Search Ontology:
Human Disease

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
(all 5)
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
  • MIM:615513
  • NCI:C187988
  • ORDO:397596
  • SNOMEDCT_US_2023_03_01:711480000
  • UMLS_CUI:C3714976
(all 7)
Ontology
Human Disease   ( DOID:0111936 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.