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Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation

(2010) BLOOD. 116(1). p.27-35
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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 (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.
Keywords
CHRONIC GRANULOMATOUS-DISEASE, COMBINED IMMUNE-DEFICIENCY, BONE-MARROW-TRANSPLANTATION, LYMPHOCYTE DYSFUNCTION, EUROPEAN EXPERIENCE, RMRP RNA, MUTATIONS, IMMUNODEFICIENCY, GROWTH, GENE

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Citation

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Chicago
Bordon Cueto De Braem, Maria, Andrew R Gennery, Mary A Slatter, Els Vandecruys, Genevieve Laureys, Paul Veys, Qasim Waseem, et al. 2010. “Clinical and Immunologic Outcome of Patients with Cartilage Hair Hypoplasia After Hematopoietic Stem Cell Transplantation.” Blood 116 (1): 27–35.
APA
Bordon Cueto De Braem, M., Gennery, A. R., Slatter, M. A., Vandecruys, E., Laureys, G., Veys, P., Waseem, Q., et al. (2010). Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. BLOOD, 116(1), 27–35.
Vancouver
1.
Bordon Cueto De Braem M, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, et al. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. BLOOD. 2010;116(1):27–35.
MLA
Bordon Cueto De Braem, Maria, Andrew R Gennery, Mary A Slatter, et al. “Clinical and Immunologic Outcome of Patients with Cartilage Hair Hypoplasia After Hematopoietic Stem Cell Transplantation.” BLOOD 116.1 (2010): 27–35. Print.
@article{1143824,
  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 (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.},
  author       = {Bordon Cueto De Braem, Maria and Gennery, Andrew R and Slatter, Mary A and Vandecruys, Els and Laureys, Genevieve and Veys, Paul and Waseem, Qasim and Friedrich, Wilhelm and Wulfraat, Nico M and Scherer, Friedrich and Cant, Andrew J and Fischer, Alain and Cavazanna-Calvo, Marina and Bredius, Robbert GM and Notarangelo, Luigi D and Mazzolari, Evelina and Neven, Benedicte and Tayfun, Guengoer},
  issn         = {0006-4971},
  journal      = {BLOOD},
  language     = {eng},
  number       = {1},
  pages        = {27--35},
  title        = {Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation},
  url          = {http://dx.doi.org/10.1182/blood-2010-01-259168},
  volume       = {116},
  year         = {2010},
}

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