Quick Search:

uzh logo
Browse by:
bullet
bullet
bullet
bullet

Zurich Open Repository and Archive 

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.

[img]
Preview
PDF
1571Kb

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 ( 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.

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
Language:English
Date:2010
Deposited On:02 Feb 2011 17:09
Last Modified:27 Nov 2013 18:30
Publisher:American Society of Hematology
ISSN:0006-4971
Additional Information:This research was originally published in Blood. Copyright by the American Society of Hematology
Publisher DOI:10.1182/blood-2010-01-259168
PubMed ID:20375313
Citations:Web of Science®. Times Cited: 11
Google Scholar™

Users (please log in): suggest update or correction for this item

Repository Staff Only: item control page