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Synapse
February 25, 2026Pediatric Blood & Cancer0 citations

Successful Hematopoietic Stem Cell Transplantation in a Patient With FCHO1 Deficiency

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SESaliha EsenbogaTDTamer DormusİYİsmail Yaz

Key Points

  • To investigate the outcomes of hematopoietic stem cell transplantation in a patient with FCHO1 deficiency.
  • Case study design
  • Administered hematopoietic stem cell transplantation
  • Monitored patient outcomes post-transplantation
  • Successful engraftment of transplanted stem cells
  • Improvement in patient's immune function
  • Reduction in symptoms associated with FCHO1 deficiency

Abstract

The authors declare no conflicts of interest.

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Cite This Study

Esenboga et al. (2026) studied this question.

synapsesocial.com/papers/699e90f0f5123be5ed04e398https://doi.org/10.1002/1545-5017.70140
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Also Consider

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

  1. 1Human FCHO1 deficiency: review of the literature and additional two cases2024 · 2 citations
  2. 2Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders2024 · 1 citations
  3. 3Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency2021 · 9 citations
  4. 4Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee2022 · 1,183 citations
  5. 5F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects2019 · 32 citations