Article
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Frontiers in immunology - 1 Jan 2023
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
Abstract excerpt
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 late onset hemophagocytic lymphohistiocytosis (HLH). Methods and results: Overall, family members presented with...
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