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Author: search.filters.author.Emily M. MaceSubject: search.filters.subject.genetics

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    Item type:Publication,
    Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
    (Elsevier BV, 2025-05)
    Manar Abdalgani
    ;
    Evelyn R. Hernandez
    ;
    Luis A. Pedroza
    ;
    Ivan K. Chinn
    ;
    Lisa R. Forbes Satter
    Scopus© Citations 1  2
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    HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
    (2020)
    Sarah A. Cook
    ;
    William A. Comrie
    ;
    POLI HARLOWE, MARIA CECILIA BERTA  
    ;
    Morgan Similuk
    ;
    Andrew J. Oler
    <jats:title>An inherited disorder makes WAVEs</jats:title> <jats:p> The WAVE regulatory complex (WRC) is a multiunit complex that regulates actin cytoskeleton formation. Although other actin-regulatory proteins modulate human immune responses, the precise role for the WRC has not yet been established. Cook <jats:italic>et al.</jats:italic> studied five patients from four unrelated families who harbor missense variants of the gene encoding the WRC component HEM1. These patients presented with recurrent infections and poor antibody responses, along with enhanced allergic and autoimmune disorders. HEM1 was found to be required for the regulation of cortical actin and granule release in T cells and also interacted with a key metabolic signaling complex contributing to the disease phenotype. By linking these interactions to immune function, this work suggests potential targets for future immunotherapies. </jats:p> <jats:p> <jats:italic>Science</jats:italic> , this issue p. <jats:related-article xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="doi" issue="6500" page="202" related-article-type="in-this-issue" vol="369" xlink:href="10.1126/science.aay5663">202</jats:related-article> </jats:p>
      10Scopus© Citations 94
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    Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia
    (2022)
    Matilde I. Conte
    ;
    M. Cecilia Poli
    ;
    Angelo Taglialatela
    ;
    Giuseppe Leuzzi
    ;
    Ivan K. Chinn
      9Scopus© Citations 13
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    Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
    (2022)
    Lisa R. Forbes
    ;
    Olive S. Eckstein
    ;
    Nitya Gulati
    ;
    Erin C. Peckham-Gregory
    ;
    Nmazuo W. Ozuah
      14Scopus© Citations 15