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Subject: search.filters.subject.agammaglobulinemia

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    Item type:Publication,
    The Latin American Society for Immunodeficiencies Registry
    (2024)
    Gisela Seminario
    ;
    Maria Edith Gonzalez-Serrano
    ;
    Carolina Sanchez Aranda
    ;
    Anete Sevciovic Grumach
    ;
    Gesmar Rodrigues Silva Segundo
    Scopus© Citations 1  3
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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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    Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
    (2021)
    Isabelle Meyts
    ;
    Giorgia Bucciol
    ;
    Isabella Quinti
    ;
    Bénédicte Neven
    ;
    Alain Fischer
    Scopus© Citations 309  3