Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.
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.
Bordon
Victoria
V
Pediatric Hematology, Oncology and Stem Cell Transplantation, Kliniek voor Kinderziekten C. Hooft, Ghent University Hospital, de Pintelaan 185, Ghent, Belgium. victoria.bordon@uzgent.be
Gennery
Andrew R
AR
Slatter
Mary A
MA
Vandecruys
Els
E
Laureys
Genevieve
G
Veys
Paul
P
Qasim
Waseem
W
Waseem
Qasim
Q
Friedrich
Wilhelm
W
Wulfraat
Nico M
NM
Scherer
Franziska
F
Cant
Andrew J
AJ
Fischer
Alain
A
Cavazzana-Calvo
Marina
M
Cavazanna-Calvo
Marina
M
Bredius
Robbert G M
RG
Notarangelo
Luigi D
LD
Mazzolari
Evelina
E
Neven
Benedicte
B
Güngör
Tayfun
T
Tayfun
Güngör
G
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
D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; C544035:RMRP non-coding RNA, human; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated