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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

Analysis reveals increased cardiovascular disease and chronic kidney disease in patients with DDX41 mutations, suggesting broader implications.

Key Points

  • Chronic kidney disease and cardiovascular disease were prominent in patients with DDX41 mutations, with 40% affected by CVD.
  • Among 154 patients, 61% had single mutated DDX41 and showed significant additional health conditions.
  • Observational analysis across multiple cohorts established links between germline DDX41 variants and diverse organ system complications.
  • Results call for further investigation into the relationship between DDX41 mutations and chronic conditions beyond hematologic disorders.

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. 2Decoding DDX41: Clinical impact of germline and somatic mutations in 77 high-risk myeloid neoplasm patients2025 · 1 citations
  3. 3DDX41-related myeloid neoplasms: Insights and treatment landscape in 250 patients managed at a large tertiary centre2025
  4. 4Causes of death in DDX41-mutated myeloid neoplasms: A retrospective study2025
  5. 5DDX41-R525H mutation promotes dysplastic hematopoiesis via aberrant splicing of key regulators of HSC biology2025 · 1 citations