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Brauer, Nina; Maruta, Yuto; Lisci, Miriam; Strege, Katharina; Oschlies, Ilske; Nakamura, Hikari; Böhm, Svea; Lehmberg, Kai; Brandhoff, Leon; Ehl, Stephan; Parvaneh, Nima; Klapper, Wolfram; Fukuda, Mitsunori; Griffiths, Gillian M.; Hennies, Hans Christian; Niehues, Tim; Ammann, Sandra

Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)

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  • Media type: E-Article
  • Title: Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)
  • Contributor: Brauer, Nina; Maruta, Yuto; Lisci, Miriam; Strege, Katharina; Oschlies, Ilske; Nakamura, Hikari; Böhm, Svea; Lehmberg, Kai; Brandhoff, Leon; Ehl, Stephan; Parvaneh, Nima; Klapper, Wolfram; Fukuda, Mitsunori; Griffiths, Gillian M.; Hennies, Hans Christian; Niehues, Tim; Ammann, Sandra
  • imprint: Frontiers Media SA, 2023
  • Published in: Frontiers in Immunology
  • Language: Not determined
  • DOI: 10.3389/fimmu.2023.1151166
  • ISSN: 1664-3224
  • Keywords: Immunology ; Immunology and Allergy
  • Origination:
  • Footnote:
  • Description: <jats:sec><jats:title>Introduction</jats:title><jats:p>Inborn errors of immunity (IEI) are characterized by a dysfunction of the immune system leading to increased susceptibility to infections, impaired immune regulation and cancer. We present a unique consanguineous family with a history of Hodgkin lymphoma, impaired EBV control and a late onset hemophagocytic lymphohistiocytosis (HLH).</jats:p></jats:sec><jats:sec><jats:title>Methods and results</jats:title><jats:p>Overall, family members presented with variable impairment of NK cell and cytotoxic T cell degranulation and cytotoxicity. Exome sequencing identified homozygous variants in <jats:italic>RAB27A</jats:italic>, <jats:italic>FBP1 (</jats:italic>Fructose-1,6-bisphosphatase 1<jats:italic>)</jats:italic> and <jats:italic>ACAD9 (</jats:italic>Acyl-CoA dehydrogenase family member 9<jats:italic>).</jats:italic> Variants in <jats:italic>RAB27A</jats:italic> lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition.</jats:p></jats:sec><jats:sec><jats:title>Discussion</jats:title><jats:p>Lymphoma is frequently seen in patients with hypomorphic mutations of genes predisposing to HLH. We hypothesize that the variants in <jats:italic>FBP1</jats:italic> and <jats:italic>ACAD9</jats:italic> might aggravate the clinical and immune phenotype, influence serial killing and lytic granule polarization by CD8 T cells. Understanding of the interplay between the multiple variants identified by whole exome sequencing (WES) is essential for correct interpretation of the immune phenotype and important for critical treatment decisions.</jats:p></jats:sec>
  • Access State: Open Access