Evidence map›Paper›PMID 40852732›Full record

ArticleFrontiers in immunology2025

Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism.

Johanna Rausch, Stephanie Herold, Simone Liebhäuser, Yagmur Bülbül, Edite Antunes Ferreira, Till Wenz, Kevin Jan Legscha, Matthias Bros, Florian Butsch, Oliver Kriege and 9 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors.

Johanna RauschDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Stephanie HeroldDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Simone LiebhäuserDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Yagmur BülbülDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Edite Antunes FerreiraDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Till WenzDepartment of Hematology and Medical Oncology, Johanniter Hospital Bonn, Bonn, Germany.
Kevin Jan LegschaDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Matthias BrosDepartment of Dermatology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Florian ButschDepartment of Dermatology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Oliver KriegeDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Klaus WarnatzCenter for Chronic Immunodeficiency, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Miriam GroßCenter for Chronic Immunodeficiency, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Kai LehmbergDivision of Pediatric Stem Cell Transplantation and Immunology, Clinic for Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Helena Clara LichtenfeldDivision of Pediatric Stem Cell Transplantation and Immunology, Clinic for Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Paul La RoséeDepartment of Internal Medicine II, Schwarzwald-Baar-Klinikum, Villingen-Schwenningen, Germany.
Markus Philipp RadsakDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Matthias TheobaldDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Hakim EchchannaouiDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Markus MunderDepartment of Hematology and Medical Oncology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Griscelli syndrome type 2 (GS-2) is a rare congenital immune dysfunction characterized by partial albinism and recurrent episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by a variant in the gene encoding Rab27a leading to a degranulation defect in melanocytes, natural killer (NK)- and T cells. Prognosis of patients with GS-2 is limited by repetitive episodes of life-threatening HLH with onset in early childhood. The only curative treatment is an allogeneic hematopoietic stem cell transplantation (HSCT). Here, we report on an 18 year old female patient with a homozygous missense p.Arg50Glnfs*35 variant in exon 2 of

Indexed as

AlbinismLymphohistiocytosis, HemophagocyticPiebaldismPrimary Immunodeficiency Diseasesrab27 GTP-Binding ProteinsAdolescentCell DegranulationFemaleHematopoietic Stem Cell TransplantationHumansKiller Cells, NaturalMutation, MissensePhenotypeRAB27A protein, humanrab27 GTP-Binding Proteinscase reportdegranulation defectGriscelli syndrome type 2hemophagocytic lymphohistiocytosishyperinflammationpolymorphonuclear neutrophilsRAB27a variant

Identifiers

PMID40852732
PMCPMC12367682

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