Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation
- 8 July 2010
- journal article
- Published by American Society of Hematology in Blood
- Vol. 116 (1), 27-35
- https://doi.org/10.1182/blood-2010-01-259168
Abstract
Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMRP gene. Beside dwarfism, CHH has a wide spectrum of clinical manifestations including variable grades of combined immunodeficiency, autoimmune complications, and malignancies. Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected. Because long-term experience in larger cohorts of CHH patients after HSCT is currently unreported, we performed a European collaborative survey reporting on 16 patients with CHH and immunodeficiency who underwent HSCT. Immune dysregulation, lymphoid malignancy, and autoimmunity were important features in this cohort. Thirteen patients were transplanted in early childhood (∼ 2.5 years). The other 3 patients were transplanted at adolescent age. Of 16 patients, 10 (62.5%) were long-term survivors, with a median follow-up of 7 years. T-lymphocyte numbers and function have normalized, and autoimmunity has resolved in all survivors. HSCT should be considered in CHH patients with severe immunodeficiency/autoimmunity, before the development of severe infections, major organ damage, or malignancy might jeopardize the outcome of HSCT and the quality of life in these patients.Keywords
This publication has 37 references indexed in Scilit:
- An RNA-dependent RNA polymerase formed by TERT and the RMRP RNANature, 2009
- Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndromeBlood, 2009
- Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasiaHuman Molecular Genetics, 2005
- Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP MutationsPLoS Genetics, 2005
- Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002Blood, 2003
- Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR geneJournal of Medical Genetics, 2003
- RMRP gene sequence analysis confirms a cartilage‐hair hypoplasia variant with only skeletal manifestations and reveals a high density of single‐nucleotide polymorphismsClinical Genetics, 2002
- Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysisNature Genetics, 1993
- Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patientsEuropean Journal of Pediatrics, 1993
- Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.Journal of Medical Genetics, 1992