Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Activated PI3-Kinase Delta Syndrome (APDS)/p110d-Activating Mutations Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency (PASLI)

  • Sven KrackerEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_39-1

Synonyms

p110δ-Activating mutations causing Senescent T cells, Lymphadenopathy, and Immunodeficiency (PASLI) (Lucas et al. 2014a) and PASLI-R1 in patients with mutations in PIK3R1 (Lucas et al. 2014b).

Definition

An immunodeficiency defined by PIK3CD gain-of-function mutations encoding for the p110δ catalytic subunit of the phosphatidylinositol3-kinase delta (PI3K δ) (activated PI3K delta syndrome (APDS) 1) (Angulo et al. 2013) or by autosomal dominant mutations in PIK3R1 encoding the regulatory subunit p85α (APDS2) (Deau et al. 2014).

Prevalence

So far (2018), over 100 patients with mutations in PIK3CD and over 50 patients with mutations in PIK3R1 have been identified (Lougaris et al. 2015; Coulter et al. 2016; Elkaim et al. 2016; Crank et al. 2014; Kracker et al. 2014; Wentink et al. 2017; Petrovski et al. 2016; Tsujita et al. 2016; Takeda et al. 2017; Dulau Florea et al. 2017; Heurtier et al. 2017).

Clinical Presentation

Most APDS patients present with recurrent bacterial...

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References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.INSERM UMR 1163, Human Lymphohematopoiesis LaboratoryParisFrance
  2. 2.Imagine InstituteUniversité Paris Descartes, Sorbonne Paris CitéParisFrance

Section editors and affiliations

  • Klaus Warnatz
    • 1
  • Joris M. van Montfrans
    • 2
  1. 1.Center for Chronic ImmunodeficiencyUniversity Medical Center and University of FreiburgFreiburgGermany
  2. 2.UMC UtrechtUtrechtNetherlands