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

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

in: FRONT IMMUNOL, Jahrgang 14, 2023, S. 1151166.

Publikationen: SCORING: Beitrag in Fachzeitschrift/ZeitungSCORING: ZeitschriftenaufsatzForschungBegutachtung

Harvard

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, GM, Hennies, HC, Niehues, T & Ammann, S 2023, 'Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)', FRONT IMMUNOL, Jg. 14, S. 1151166. https://doi.org/10.3389/fimmu.2023.1151166

APA

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. M., Hennies, H. C., Niehues, T., & Ammann, S. (2023). Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A). FRONT IMMUNOL, 14, 1151166. https://doi.org/10.3389/fimmu.2023.1151166

Vancouver

Bibtex

@article{3ae6d34a7a234c14af581715adc438a8,
title = "Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)",
abstract = "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 variable impairment of NK cell and cytotoxic T cell degranulation and cytotoxicity. Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA dehydrogenase family member 9). Variants in RAB27A lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition.DISCUSSION: Lymphoma is frequently seen in patients with hypomorphic mutations of genes predisposing to HLH. We hypothesize that the variants in FBP1 and ACAD9 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.",
keywords = "Humans, Acyl-CoA Dehydrogenases, Blister, Energy Metabolism, Genotype, Immunologic Deficiency Syndromes/genetics, Lymphoma, Primary Immunodeficiency Diseases/genetics, rab27 GTP-Binding Proteins/genetics",
author = "Nina Brauer and Yuto Maruta and Miriam Lisci and Katharina Strege and Ilske Oschlies and Hikari Nakamura and Svea B{\"o}hm and Kai Lehmberg and Leon Brandhoff and Stephan Ehl and Nima Parvaneh and Wolfram Klapper and Mitsunori Fukuda and Griffiths, {Gillian M} and Hennies, {Hans Christian} and Tim Niehues and Sandra Ammann",
note = "Copyright {\textcopyright} 2023 Brauer, Maruta, Lisci, Strege, Oschlies, Nakamura, B{\"o}hm, Lehmberg, Brandhoff, Ehl, Parvaneh, Klapper, Fukuda, Griffiths, Hennies, Niehues and Ammann.",
year = "2023",
doi = "10.3389/fimmu.2023.1151166",
language = "English",
volume = "14",
pages = "1151166",
journal = "FRONT IMMUNOL",
issn = "1664-3224",
publisher = "Lausanne : Frontiers Research Foundation",

}

RIS

TY - JOUR

T1 - Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)

AU - Brauer, Nina

AU - Maruta, Yuto

AU - Lisci, Miriam

AU - Strege, Katharina

AU - Oschlies, Ilske

AU - Nakamura, Hikari

AU - Böhm, Svea

AU - Lehmberg, Kai

AU - Brandhoff, Leon

AU - Ehl, Stephan

AU - Parvaneh, Nima

AU - Klapper, Wolfram

AU - Fukuda, Mitsunori

AU - Griffiths, Gillian M

AU - Hennies, Hans Christian

AU - Niehues, Tim

AU - Ammann, Sandra

N1 - Copyright © 2023 Brauer, Maruta, Lisci, Strege, Oschlies, Nakamura, Böhm, Lehmberg, Brandhoff, Ehl, Parvaneh, Klapper, Fukuda, Griffiths, Hennies, Niehues and Ammann.

PY - 2023

Y1 - 2023

N2 - 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 variable impairment of NK cell and cytotoxic T cell degranulation and cytotoxicity. Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA dehydrogenase family member 9). Variants in RAB27A lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition.DISCUSSION: Lymphoma is frequently seen in patients with hypomorphic mutations of genes predisposing to HLH. We hypothesize that the variants in FBP1 and ACAD9 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.

AB - 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 variable impairment of NK cell and cytotoxic T cell degranulation and cytotoxicity. Exome sequencing identified homozygous variants in RAB27A, FBP1 (Fructose-1,6-bisphosphatase 1) and ACAD9 (Acyl-CoA dehydrogenase family member 9). Variants in RAB27A lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition.DISCUSSION: Lymphoma is frequently seen in patients with hypomorphic mutations of genes predisposing to HLH. We hypothesize that the variants in FBP1 and ACAD9 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.

KW - Humans

KW - Acyl-CoA Dehydrogenases

KW - Blister

KW - Energy Metabolism

KW - Genotype

KW - Immunologic Deficiency Syndromes/genetics

KW - Lymphoma

KW - Primary Immunodeficiency Diseases/genetics

KW - rab27 GTP-Binding Proteins/genetics

U2 - 10.3389/fimmu.2023.1151166

DO - 10.3389/fimmu.2023.1151166

M3 - SCORING: Journal article

C2 - 37388727

VL - 14

SP - 1151166

JO - FRONT IMMUNOL

JF - FRONT IMMUNOL

SN - 1664-3224

ER -