Details of Disease

General Information of Disease (ID: DISRL9M9)

Disease Name Activated PI3K-delta syndrome
Synonyms senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation; APDS
Disease Hierarchy
DISXMS80: Agammaglobulinemia
DISRL9M9: Activated PI3K-delta syndrome

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 Supportive Autosomal dominant [1]
PTEN TTEUQ4M Supportive 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
PIK3CD OTOMP6TH Supportive Autosomal dominant [1]
PIK3R1 OT5BZ1J9 Supportive Autosomal dominant [3]
PTEN OTOWDUNT Supportive Autosomal dominant [2]
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References

1 Phosphoinositide 3-kinase gene mutation predisposes to respiratory infection and airway damage. Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.
2 Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase syndrome-like immunodeficiency. J Allergy Clin Immunol. 2016 Dec;138(6):1672-1680.e10. doi: 10.1016/j.jaci.2016.03.055. Epub 2016 Jul 14.
3 A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest. 2014 Sep;124(9):3923-8. doi: 10.1172/JCI75746. Epub 2014 Aug 18.