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Encyclopedia of Medical Immunology pp 1–4Cite as

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

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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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Authors and Affiliations

  1. INSERM UMR 1163, Human Lymphohematopoiesis Laboratory, Paris, France

    Sven Kracker

  2. Imagine Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France

    Sven Kracker

Authors
  1. Sven Kracker
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Corresponding author

Correspondence to Sven Kracker .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, VIC, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Noel R. Rose

Section Editor information

  1. Center for Chronic Immunodeficiency, University Medical Center and University of Freiburg, Freiburg, Germany

    Klaus Warnatz

  2. UMC Utrecht, Utrecht, Netherlands

    Joris M. van Montfrans

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Kracker, S. (2018). Activated PI3-Kinase Delta Syndrome (APDS)/p110d-Activating Mutations Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency (PASLI). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_39-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_39-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

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