FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 14 ID (Ontology) DOID:0111936 (Human Disease)
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.
Also Known As "activated PI3K-delta syndrome" ; "APDS" ; "IMD14" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 14       1
 for disease ribbon | immunodeficiency 14       1
 model of | immunodeficiency 14       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___________________
combined immunodeficiency                        |
 |__combined T cell and B cell immunodeficiency__|
                                                 immunodeficiency 14  1 rec.
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Is a autosomal dominant disease
combined T cell and B cell immunodeficiency
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Synonyms
  • "activated PI3K-delta syndrome" EXACT
    "APDS" EXACT OMO:0003012
    "IMD14" EXACT OMO:0003012
    "PASLI disease" EXACT
    "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT
Secondary IDs
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GARD:11983
MESH:C585640
MIM:615513
NCI:C187988
ORDO:397596
SNOMEDCT_US_2023_03_01:711480000
UMLS_CUI:C3714976