Stem Cell Transplant for Bone Marrow Failure Syndromes

Inclusion Criteria: Patients eligible for transplantation under this protocol will be <35 years of age, and will be diagnosed with: a bone marrow failure syndrome unresponsive to available therapy, including but not limited to Diamond-Blackfan anemia, Shwachman Diamond syndrome or Kostmann's neutropenia but exclusive of aplastic anemia. Diamond Blackfan Anemia: Patients must show evidence of steroid resistance requiring equivalent of >6 transfusions yearly despite steroid therapy. Evidence of developing aplasia or myelodysplasia will also be criteria for transplantation. Kostmann's Neutropenia, Shwachman-Diamond syndrome: Patients must have been previously diagnosed as having a clinical picture characteristic of Shwachman-Diamond syndrome (exocrine pancreatic insufficiency, growth retardation, metaphyseal dysostosis, neutropenia), or must have a bone marrow aspirate consistent with Kostmann's neutropenia, with no evidence of acute leukemia. Patients must have failed therapy with granulocyte-colony stimulating factor (G-CSF), as determined by an inability to maintain an absolute neutrophil count (ANC) >750 cells/ml(3), or manifesting recurrent infections despite G-CSF administration resulting in life threatening infections or repeated hospitalizations (<4 /year). Exclusion Criteria: Patients >35 years of age Karnofsky score <70% Hepatic dysfunction as determined by bilirubin >3.0, ALT >150, or active hepatitis Pulmonary function tests with forced volume vital capacity (FVC) and forced expiratory volume (FEV) <70%; O2 saturation <94% Renal dysfunction with glomerular filtration rate (GFR) <30% of predicted. Cardiac compromise, with left ejection fraction <45%. Severe, stable neurologic impairment. Human immunodeficiency virus (HIV) positivity. Pregnant or lactating females