Absence of abnormalities of c-kit or its ligand in two patients with Diamond-Blackfan anemia
| Autor: | FH Martin, Larry G. Bennett, Janis L. Abkowitz, Virginia C. Broudy, Krisztina M. Zsebo |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
medicine.medical_specialty
business.industry Anemia Immunology Stem cell factor Cell Biology Hematology Ligand (biochemistry) medicine.disease Biochemistry Pathogenesis Endocrinology hemic and lymphatic diseases Internal medicine Medicine In patient Congenital disease Diamond–Blackfan anemia business Receptor |
| Zdroj: | Blood. 79:25-28 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood.v79.1.25.25 |
| Popis: | As Diamond-Blackfan anemia shares clinical features with W and Steel defects in mice, we investigated the possibility that this human disorder might result from an abnormality of the c-kit receptor or its ligand, stem cell factor (SCF). For these studies, full nucleotide sequences for coding regions of c-kit and SCF were generated for two Diamond-Blackfan anemia patients and were normal. Similarly, the kds of SCF receptors on their marrow cells (31 pmol/L, 43 pmol/L) were comparable with those found in three normal controls (50 pmol/L, 55 pmol/L, 27 pmol/L). Serum SCF concentrations were 6.9 ng/mL in patient A, 14.6 ng/mL in patient B, who has been in hematologic remission since adolescence, and 2.7 ng/mL in the 3-year-old daughter of patient B, who also has Diamond-Blackfan anemia but is transfusion-dependent. It is possible that the SCF level in patient B increased with puberty, leading to her remission. These data provide evidence that Diamond- Blackfan anemia does not result from structural abnormalities of c-kit or SCF. |
| Databáze: | OpenAIRE |
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