title: Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.
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.
authors.affiliation: Pediatric Hematology, Oncology and Stem Cell Transplantation, Kliniek voor Kinderziekten C. Hooft, Ghent University Hospital, de Pintelaan 185, Ghent, Belgium. victoria.bordon@uzgent.be
authors.forename: Victoria
authors.initials: V
authors.lastname: Bordon
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Gennery
authors.forename: Mary A
authors.initials: MA
authors.lastname: Slatter
authors.forename: Els
authors.initials: E
authors.lastname: Vandecruys
authors.forename: Genevieve
authors.initials: G
authors.lastname: Laureys
authors.forename: Paul
authors.initials: P
authors.lastname: Veys
authors.forename: Waseem
authors.initials: W
authors.lastname: Qasim
authors.forename: Qasim
authors.initials: Q
authors.lastname: Waseem
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Friedrich
authors.forename: Nico M
authors.initials: NM
authors.lastname: Wulfraat
authors.forename: Franziska
authors.initials: F
authors.lastname: Scherer
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Cant
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Marina
authors.initials: M
authors.lastname: Cavazzana-Calvo
authors.forename: Marina
authors.initials: M
authors.lastname: Cavazanna-Calvo
authors.forename: Robbert G M
authors.initials: RG
authors.lastname: Bredius
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Evelina
authors.initials: E
authors.lastname: Mazzolari
authors.forename: Benedicte
authors.initials: B
authors.lastname: Neven
authors.forename: Tayfun
authors.initials: T
authors.lastname: Güngör
authors.forename: Güngör
authors.initials: G
authors.lastname: Tayfun
mesh_terms: D000293:Adolescent; D001827:Body Height; D001835:Body Weight; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000276:immunology / Q000601:surgery*; D002356:Cartilage / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics / Q000276:immunology / Q000601:surgery*; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D018655:Lymphocyte Count; D016131:Lymphocyte Subsets / Q000166:cytology / Q000276:immunology; D008214:Lymphocytes / Q000166:cytology / Q000276:immunology*; D008297:Male; D009154:Mutation; D017063:Outcome Assessment, Health Care; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics
chemical_list: D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; C544035:RMRP non-coding RNA, human; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated