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Lookup NU author(s): Professor Andrew GenneryORCiD, Professor Mary Slatter, Professor Andrew Cant
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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 (similar to 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. (Blood. 2010; 116(1): 27-35)
Author(s): Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, Waseem Q, Friedrich W, Wulfraat NM, Scherer F, Cant AJ, Fischer A, Cavazanna-Calvo M, Bredius RGM, Notarangelo LD, Mazzolari E, Neven B, Tayfun G
Publication type: Article
Publication status: Published
Journal: Blood
Year: 2010
Volume: 116
Issue: 1
Pages: 27-35
Print publication date: 07/04/2010
ISSN (print): 0006-4971
ISSN (electronic): 1528-0020
Publisher: American Society of Hematology
URL: http://dx.doi.org/10.1182/blood-2010-01-259168
DOI: 10.1182/blood-2010-01-259168
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