1. Allogeneic bone marrow transplantation restores IGF-I production and linear growth in a gamma-SCID patient with abnormal growth hormone receptor signaling.
- Author
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Salerno M, Busiello R, Esposito V, Cosentini E, Adriani M, Selleri C, Rotoli B, and Pignata C
- Subjects
- Graft Survival, Humans, Immune System physiology, Immunoglobulin gamma-Chains genetics, Infant, Insulin-Like Growth Factor I deficiency, Male, Receptors, Somatotropin, Regeneration, Signal Transduction, Transplantation, Homologous, Bone Marrow Transplantation, Growth, Insulin-Like Growth Factor I biosynthesis, Severe Combined Immunodeficiency therapy
- Abstract
Severe combined immunodeficiency (SCID) is a heterogeneous group of disorders characterized by a severe defect of both T- and B-cell immunity, which generally require allogeneic bone marrow transplantation (BMT) within the first years of life. We previously reported a patient affected with an X-linked SCID due to L183S hemizygous missense gamma chain mutation, whose severe short stature was due to a peripheral growth hormone (GH) hyporesponsiveness associated to abnormal GH receptor (GH-R) signal transduction. In this study, we report the effect of BMT on the GH-R/insulin-like growth factor I (IGF-I) axis. After BMT, the patient showed a significant improvement in linear growth and normalization of basal- and GH-stimulated IGF-I values, which paralleled a fully competent immunological reconstitution. This suggests that cells derived from the hematopoietic stem cell may exert an unexpectedly significant role in producing IGF-I. This may also suggest that stem cell-based therapies may be useful for the correction of non-hematopoietic inherited disorders, such as those of GH-R/IGF-I axis.
- Published
- 2004
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