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Natural Course of Activated Phosphoinositide 3-Kinase Delta Syndrome in Childhood and Adolescence

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F21%3AN0000142" target="_blank" >RIV/00064190:_____/21:N0000142 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/21:10429942 RIV/00064203:_____/21:10429942 RIV/00216208:11110/21:10429942

  • Result on the web

    <a href="https://doi.org/10.3389/fped.2021.697706" target="_blank" >https://doi.org/10.3389/fped.2021.697706</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3389/fped.2021.697706" target="_blank" >10.3389/fped.2021.697706</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Natural Course of Activated Phosphoinositide 3-Kinase Delta Syndrome in Childhood and Adolescence

  • Original language description

    Activated phosphoinositide 3-kinase delta syndrome (APDS), caused by mutations in PI3Kδ catalytic p110δ (PIK3CD) or regulatory p85α (PIK3R1) subunits, is a primary immunodeficiency affecting both humoral and cellular immunity, which shares some phenotypic similarities with hyper-IgM syndromes and common variable immunodeficiency (CVID). Since its first description in 2013, over 200 patients have been reported worldwide. Unsurprisingly, many of the newly diagnosed patients were recruited later in life from previously long-standing unclassified immunodeficiencies and the early course of the disease is, therefore, often less well-described. In this study, we report clinical and laboratory features of eight patients followed for APDS, with particular focus on early warning signs, longitudinal development of their symptoms, individual variations, and response to therapy. The main clinical features shared by our patients included recurrent bacterial and viral respiratory tract infections, gastrointestinal disease, non-malignant lymphoproliferation, autoimmune thyroiditis, and susceptibility to EBV. All patients tolerated vaccination with both attenuated live and subunit vaccines with no adverse effects, although some failed to mount adequate antibody response. Laboratory findings were characterized by dysgammaglobulinaemia, elevated serum IgM, block in B-cell maturation with high transitional B cells, and low naïve T cells with CD8 T-cell activation. All patients benefited from immunoglobulin replacement therapy, whereas immunosuppression with mTOR pathway inhibitors was only partially successful. Therapy with specific PI3K inhibitor leniolisib was beneficial in all patients in the clinical trial. These vignettes, summary data, and particular tell-tale signs should serve to facilitate early recognition, referral, and initiation of outcome-improving therapy.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database

  • CEP classification

  • OECD FORD branch

    30209 - Paediatrics

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2021

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    FRONTIERS IN PEDIATRICS

  • ISSN

    2296-2360

  • e-ISSN

  • Volume of the periodical

    9

  • Issue of the periodical within the volume

    19.7.2021

  • Country of publishing house

    CH - SWITZERLAND

  • Number of pages

    12

  • Pages from-to

    Article number 697706

  • UT code for WoS article

  • EID of the result in the Scopus database

    2-s2.0-85111934893