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December 8, 2025BloodOpen Access

Exploring the spectrum of non-malignant complications in germline DDX41-associated hematologic disorders

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Authors

MOMark OrlandKLKartik LakhotiyaADArda Durmaz

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Overview

Explores cardiovascular and renal complications in myeloid neoplasia due to DDX41 mutations, suggesting broader implications for patient health.

Key Points

  • To investigate non-malignant complications associated with germline DDX41 mutations in patients with hematologic disorders.
  • Reviewed 154 cases with DDX41 mutations from a genetic screen of 11,500 cases
  • Analyzed clinical parameters and past medical history
  • Examined presence of complications such as immunodeficiency and cardiovascular disease
  • 20% presented with immunodeficiency, 25% with neurologic diseases, 30% with rheumatologic diseases
  • 40% of patients had a past medical history of cardiovascular disease
  • Identified a high prevalence of chronic kidney disease and acute renal injury in patients

Cite This Study

Orland et al. (2025) studied this question.

synapsesocial.com/papers/69362f7d4fa91c937236e44fhttps://doi.org/10.1182/blood-2025-1445
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Unsupervised clustering of DDX41 mutants informs on the somatic landscape of single germline hits2025
  2. 2Leveraging paired germline and somatic analysis to improve the classification of <i>DDX41</i> variants2026 · 1 citations
  3. 3Decoding DDX41: Clinical impact of germline and somatic mutations in 77 high-risk myeloid neoplasm patients2025 · 1 citations
  4. 4Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies2025
  5. 5How to manage patients with germline <i>DDX41</i> variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms2024 · 14 citations