Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-44391
Bordon, V; Gennery, A R; Slatter, M A; Vandecruys, E; Laureys, G; Veys, P; Friedrich, W; Qasim, W; Wulfraat, N M; Scherer, F; Cant, A J; Fischer, A; Cavazanna-Calvo, M; Bredius, R G M; Notarangelo, L D; Mazzolari, E; Neven, B; Güngör, T (2010). Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. Blood, 116(1):27-35.
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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 ( approximately 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.
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|Contributors:||Inborn Error Working Party of the European Bone Marrow Transplantation (EBMT) group|
|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic|
|DDC:||610 Medicine & health|
|Deposited On:||02 Feb 2011 16:09|
|Last Modified:||27 Nov 2013 17:30|
|Publisher:||American Society of Hematology|
|Additional Information:||This research was originally published in Blood. Copyright by the American Society of Hematology|
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