Abstract
Aplastic anemia, an uncommon hematological disease, is the paradigm of the human bone marrow failure syndromes. The pathophysiology is immune mediated in most cases, with activated type 1 cytotoxic T cells implicated. The molecular basis of the aberrant immune response and deficiencies in hematopoietic cells is now being defined genetically; examples are telomere repair gene mutations in the target cells and dysregulated T-cell activation pathways. Almost universally fatal just a few decades ago, aplastic anemia can now be cured or ameliorated by stem-cell transplantation or immunosuppressive drug therapy. Immunosuppression with antithymocyte globulins (ATGs) and cyclosporine is effective at restoring blood-cell production in the majority of patients, but relapse and especially evolution of clonal hematologic diseases remain problematic. Allogeneic stem-cell transplant from histocompatible sibling donors is curative in the great majority of young patients with severe aplastic anemia; the major challenges are extending the benefits of transplantation to patients who are older or who lack family donors.
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Lior, B., Yair, L. (2008). Idiopathic Aplastic Anemia. In: Shoenfeld, Y., Cervera, R., Gershwin, M.E. (eds) Diagnostic Criteria in Autoimmune Diseases. Humana Press. https://doi.org/10.1007/978-1-60327-285-8_95
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DOI: https://doi.org/10.1007/978-1-60327-285-8_95
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