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Author: search.filters.author.James R. LupskiSubject: search.filters.subject.genetics

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    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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      25Scopus© Citations 20
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    Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
    (2021)
    Francesco Saettini
    ;
    POLI HARLOWE, MARIA CECILIA BERTA  
    ;
    Jaime Vengoechea
    ;
    Sonia Bonanomi
    ;
    Julio C. Orellana
    <jats:title>Abstract</jats:title> <jats:p>Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound-heterozygous variants in the gene for folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and phosphatidylinositol 3-kinase/AKT pathway, was impaired. These defects recapitulated the Fnip1−/− animal model. Moreover, we identified either uniparental disomy or copy-number variants (CNVs) in 2 patients, expanding the variant spectrum of this novel inborn error of immunity. The results indicate that FNIP1 deficiency can be caused by complex genetic mechanisms and support the clinical utility of exome sequencing and CNV analysis in patients with broad phenotypes, including agammaglobulinemia and HCM. FNIP1 deficiency is a novel inborn error of immunity characterized by early and severe B-cell development defect, agammaglobulinemia, variable neutropenia, and HCM. Our findings elucidate a functional and relevant role of FNIP1 in B-cell development and metabolism and potentially neutrophil activity.</jats:p>
    Scopus© Citations 28  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