title: Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia.
abstract: W/Wv and S1/S1d mice with macrocytic anemias are a potential model for human inherited pure red cell anemia, called Diamond-Blackfan anemia (DBA). The W mutation involves the gene for c-kit, and the S1 mutation the gene for the kit ligand, called mast cell growth factor, steel factor, or stem cell factor. Since many children with DBA respond to treatment with corticosteroids, we administered steroids to these genetically anemic mice, to determine whether they might provide a model for the human disease. There was no improvement in the murine anemia, consistent with other evidence suggesting that mutations in kit or steel may not be involved in Diamond-Blackfan anemia.
authors.affiliation: Polly Annenberg Levee Hematology Center, Mount Sinai School of Medicine, New York, NY.
authors.forename: B P
authors.initials: BP
authors.lastname: Alter
authors.forename: T
authors.initials: T
authors.lastname: Gaston
authors.forename: J M
authors.initials: JM
authors.lastname: Lipton
mesh_terms: D000305:Adrenal Cortex Hormones / Q000494:pharmacology*; D000748:Anemia, Macrocytic / Q000188:drug therapy; D000818:Animals; D004195:Disease Models, Animal; D005199:Fanconi Anemia / Q000188:drug therapy*; D016298:Hematopoietic Cell Growth Factors / Q000235:genetics; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains / Q000502:physiology*; D011518:Proto-Oncogene Proteins / Q000235:genetics; D019009:Proto-Oncogene Proteins c-kit; D019089:Stem Cell Factor
chemical_list: D000305:Adrenal Cortex Hormones; D016298:Hematopoietic Cell Growth Factors; D011518:Proto-Oncogene Proteins; D019089:Stem Cell Factor; D019009:Proto-Oncogene Proteins c-kit