EC Clinical and Medical Case Reports

Bone marrow failure syndrome (BMFS) encompasses a spectrum of disorders characterized by ineffective hematopoiesis resulting in reduced production of red blood cells, white blood cells, and platelets and are usually associated with extra hematopoietic abnormalities and increased risk of malignancies. These disorders can be acquired or inherited and pose significant challenges in diagnosis and management. The etiology of BMFS is diverse, ranging from acquired causes such as exposure to environmental toxins, viral infections, and autoimmune disorders, to inherited genetic mutations affecting hematopoietic stem cells. The key pathogenic factors in some cases of BMFS are dysregulated immune responses, impaired DNA repair mechanisms, and abnormalities in telomerase function [1-3].

1. Malouf C., et al. “Translational research for bone marrow failure patients”. Experimental Hematology 105 (2022): 18-21.
2. Solimando AG., et al. “Aplastic anemia as a roadmap for bone marrow failure: an overview and a clinical workflow”. International Journal of Molecular Sciences 19 (2022): 11765.
3. Dokal I., et al. “Inherited bone marrow failure in the pediatric patient”. Blood6 (2022): 556-570.
4. Park M. “Overview of inherited bone marrow failure syndromes”. Blood ResearchS1 (2022): 49-54.
5. Abdelhamed S., et al. “Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice”. Journal of Clinical Investigation 21 (2022): e158869.
6. Feurstein S. “Emerging bone marrow failure syndromes-new pieces to an unsolved puzzle”. Frontiers in Oncology 13 (2023): 1128533.
7. Gutierrez-Rodrigues F., et al. “Differential diagnosis of bone marrow failure syndromes guided by machine learning”. Blood17 (2023): 2100-2113.
8. Meng Q., et al. “Precise somatic genome editing for treatment of inborn errors of immunity”. Frontiers in Immunology 13 (2022): 960348.
9. Bleesing J. “Gain-of-function defects in toll-like receptor 8 shed light on the interface between immune system and bone marrow failure disorders”. Frontiers in Immunology 13 (2022): 935321.
10. Groarke EM., et al. “Efficacy of JAK1/2 inhibition in murine immune bone marrow failure”. Blood1 (2023): 72-89.
11. Jeong HC., et al. “USB1 is a miRNA deadenylase that regulates hematopoietic development”. Science 6635 (2023): 901-907.