Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)
Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths G, Hennies H, Niehues T, Ammann S. Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A). Frontiers In Immunology 2023, 14: 1151166. PMID: 37388727, PMCID: PMC10303925, DOI: 10.3389/fimmu.2023.1151166.Peer-Reviewed Original ResearchConceptsInborn errors of immunityHemophagocytic lymphohistiocytosisWhole-exome sequencingImmune phenotypeImpairment of NK cellsHistory of Hodgkin lymphomaExome sequencingGriscelli syndrome type 2Increased susceptibility to infectionCD8 T cellsSusceptibility to lymphomaImpaired immune regulationErrors of immunityT cell degranulationSusceptibility to infectionHodgkin lymphomaNK cellsLytic granule polarizationT cellsImmune regulationCritical treatment decisionsGranule polarizationVariable impairmentVesicle traffickingHomozygous variant
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply