Details of Disease

General Information of Disease (ID: DISI1EMU)

Disease Name Immunodeficiency 14
Synonyms
p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency; Activated PI3K-Delta syndrome; IMD14; immunodeficiency 14A, autosomal dominant; immunodeficiency 14; immunodeficiency type 14; Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)
Disease Hierarchy
DISRL9M9: Activated PI3K-delta syndrome
DISI1EMU: Immunodeficiency 14
Disease Identifiers
MONDO ID
MONDO_0014222
MESH ID
C585640
UMLS CUI
C3714976
OMIM ID
615513
MedGen ID
811535
SNOMED CT ID
711480000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PIK3CD TTGBPJE Strong Genetic Variation [1]
PIK3CD TTGBPJE Definitive Autosomal dominant [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EOMES OTB9VQFA Strong Altered Expression [3]
PIK3R1 OT5BZ1J9 Strong Genetic Variation [4]
PIK3CD OTOMP6TH Definitive Autosomal dominant [2]
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References

1 Dysregulated actin dynamics in activated PI3K syndrome.Clin Immunol. 2020 Jan;210:108311. doi: 10.1016/j.clim.2019.108311. Epub 2019 Nov 21.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.Immunol Cell Biol. 2018 Nov;96(10):1060-1071. doi: 10.1111/imcb.12169. Epub 2018 Jun 14.
4 Conformational disruption of PI3K regulation by immunodeficiency mutations in PIK3CD and PIK3R1.Proc Natl Acad Sci U S A. 2017 Feb 21;114(8):1982-1987. doi: 10.1073/pnas.1617244114. Epub 2017 Feb 6.