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Metadata
ID DOID:0111936
Name immunodeficiency 14
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 PIK3CD on chromosome 1p36.22.
https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome, https://pubmed.ncbi.nlm.nih.gov/24165795/
Xrefs

GARD:11983

MESH:C585640

OMIM:615513

ORDO:397596

SNOMEDCT_US_2020_09_01:711480000

UMLS_CUI:C3714976

Synonyms

activated PI3K-delta syndrome [EXACT]

APDS [EXACT]

IMD14 [EXACT]

PASLI disease [EXACT]

senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a autosomal dominant disease

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