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

INTRODUCTION: 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 lat...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10303925/
https://www.ncbi.nlm.nih.gov/pubmed/37388727
http://dx.doi.org/10.3389/fimmu.2023.1151166