Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the

PRF1 gene compound heterozygosity primary HLH

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
27 Feb 2024
Historique:
received: 23 12 2023
revised: 12 02 2024
accepted: 23 02 2024
medline: 13 3 2024
pubmed: 13 3 2024
entrez: 13 3 2024
Statut: epublish

Résumé

Hemophagocytic lymphohistiocytosis (HLH) is a rare but in most cases life-threatening immune-mediated disease of the hematopoietic system frequently associated with hematologic neoplasms. Here, we report on a case in which we detected a novel constellation of two missense variants affecting the

Identifiants

pubmed: 38474010
pii: ijms25052762
doi: 10.3390/ijms25052762
pii:
doi:

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Alina Stadermann (A)

Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.

Markus Haar (M)

Department of Intensive Care Medicine, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20251 Hamburg, Germany.

Armin Riecke (A)

Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.

Thomas Mayer (T)

Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.

Christian Neumann (C)

Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.

Arthur Bauer (A)

Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.

Ansgar Schulz (A)

Department of Pediatric Medicine, University Hospital Ulm, Eythstraße 24, 89075 Ulm, Germany.

Kumar Nagarathinam (K)

Institute of Biochemistry, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

Niklas Gebauer (N)

Department of Hematology and Oncology, University Hospital Schleswig-Holstein Campus Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

Svea Böhm (S)

Institute for Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Breisacher Straße 115, 79106 Freiburg, Germany.
Division of Pediatric Stem Cell Transplantation and Immunology, Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany.

Miriam Groß (M)

Institute for Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Breisacher Straße 115, 79106 Freiburg, Germany.

Michael Grunert (M)

Department of Nuclear Medicine, Bundeswehrkrankenhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.
Department of Nuclear Medicine, University Hospital Ulm, Albert-Einstein-Allee 23, 89081 Ulm, Germany.

Matthias Müller (M)

Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.

Hanno Witte (H)

Department of Hematology and Oncology, Bundeswehrkrankemhaus Ulm, Oberer Eselsberg 40, 89081 Ulm, Germany.
Department of Hematology and Oncology, University Hospital Schleswig-Holstein Campus Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

Classifications MeSH