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

doi:10.1182/blood-2010-01-259168

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

Blood - 8 Jul 2010

Bordon Victoria, Gennery Andrew R, Slatter Mary A, Vandecruys Els, Laureys Genevieve, Veys Paul, Qasim Waseem, Waseem Qasim, Friedrich Wilhelm, Wulfraat Nico M, Scherer Franziska, Cant Andrew J, Fischer Alain, Cavazzana-Calvo Marina, Cavazanna-Calvo Marina, Bredius Robbert G M, Notarangelo Luigi D, Mazzolari Evelina, Neven Benedicte, Güngör Tayfun, Tayfun Güngör

Abstract excerpt

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...

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PMID: 20375313
DOI: 10.1182/blood-2010-01-259168

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