Evidence map›Paper›PMID 40407635›Full record

ArticleHematology reports2025

Severe Aplastic Anemia Complicated with Fatal Invasive Fungal Infections in a Young Patient Harboring Perforin Gene Polymorphisms.

Maria I Krithinaki, Ioannis Kokkinakis, Styliani Markatzinou, Christos Masaoutis, Elena Solomou, Ioanna Papakitsou, Nektaria Xirouchaki, Ioannis Liapis, Helen A Papadaki, Charalampos G Pontikoglou

Abstract readCase Reports
In one paragraph

Article in Hematology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

10 authors.

Maria I KrithinakiDepartment of Hematology, School of Medicine, University of Crete, University General Hospital of Heraklion, 71500 Heraklion, Greece.ORCID 0009-0007-0989-8346
Ioannis KokkinakisDepartment of Pathology, School of Medicine, University of Crete, 71500 Heraklion, Greece.
Styliani MarkatzinouDepartment of Medical Imaging, University General Hospital of Heraklion, 71500 Heraklion, Greece.ORCID 0000-0001-5214-0011
Christos MasaoutisDepartment of Hemopathology, Evangelismos General Hospital, 11521 Athens, Greece.
Elena SolomouInternal Medicine-Hematology, University of Patras Medical School, 26500 Rion, Greece.
Ioanna PapakitsouDepartment of Intensive Care Medicine, University General Hospital of Heraklion, 71500 Heraklion, Greece.
Nektaria XirouchakiDepartment of Intensive Care Medicine, University General Hospital of Heraklion, 71500 Heraklion, Greece.
Ioannis LiapisDepartment of Hematology, Aghios Georgios Hospital, 73300 Chania, Greece.
Helen A PapadakiDepartment of Hematology, School of Medicine, University of Crete, University General Hospital of Heraklion, 71500 Heraklion, Greece.ORCID 0000-0002-5146-9699
Charalampos G PontikoglouDepartment of Hematology, School of Medicine, University of Crete, University General Hospital of Heraklion, 71500 Heraklion, Greece.ORCID 0009-0002-7198-3887

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSevere aplastic anemia (SAA) is an uncommon life-threatening disorder characterized by hypocellular bone marrow and pancytopenia. It is typically associated with immune-mediated mechanisms, requiring immunosuppressive therapy (IST) or hematopoietic stem cell transplantation (HSCT). Infections, especially invasive fungal infections such as mucormycosis and aspergillosis, constitute principal causes of morbidity and mortality in patients with SAA. Genetic predispositions, including perforin (PRF1) polymorphisms, may further complicate disease outcomes by impairing immune function. CASE REPORT: We describe a case of a 36-year-old female patient diagnosed with SAA, for whom IST was considered, due to the unavailability of a matched sibling donor for HSCT. The patient presented with a feverish condition and deep neck space abscesses were revealed by imaging, caused by invasive aspergillosis. To prioritize infection control, IST was postponed and antifungal therapy with abscess drainage was initiated. However, aspergillosis progressed, despite aggressive and prompt treatment, and ultimately resulted in sepsis, multiorgan failure, and death. In addition, mucormycosis was confirmed post-mortem. Two heterozygous

conclusionsThe complex interplay between managing SAA and addressing invasive fungal infections, which remain a leading cause of mortality in immunocompromised patients, is highlighted in this case. The latter emphasizes the importance of prompt diagnosis and targeted treatment to alleviate infection-related complications while maintaining care continuity for the hematologic disorder. The detection of

Indexed as

aspergillosisimmunosuppressive therapymucormycosisperforin gene mutationsevere aplastic anemia

Identifiers

PMID40407635
PMCPMC12101316

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.