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HK J Paediatr (New Series)
Vol 19. No. 1,
2014
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HK J Paediatr (New Series) 2014;19:32-36
Case Report
Unrelated Cord Blood Transplantation in a Pair of Siblings with X-linked Severe Combined Immunodeficiency: The Case for Early Diagnosis and Transplant
PYT Chan, MHK Ho, DKL Cheuk, TL Lee, SY Ha, YL Lau Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, 102 Pokfulam Road, Pokfulam, Hong Kong, China PYT Chan (陳英婷) FHKCPaed, FHKAM(Paed) MHK Ho (何學工) FHKCPaed, FHKAM(Paed) DKL Cheuk (卓家良) FHKCPaed, FHKAM(Paed) TL Lee (李子良) FHKCPaed, FHKAM(Paed) SY Ha (夏修賢) FHKCPaed, FHKAM(Paed) YL Lau (劉宇隆) FHKCPaed, FHKAM(Paed) Correspondence to: Prof YL Lau Received January 21, 2013
Abstract Haematopoietic stem cell transplantation is a curative therapy for severe combined immunodeficiency (SCID) after the first success forty years ago. We report a pair of Chinese siblings with X-linked SCID who had very different transplant outcomes. The elder brother was diagnosed late and had multiple infections before transplant. He developed severe graft-versus- host- disease and life-threatening haemolytic anaemia. He died from overwhelming septicaemia. The younger brother, who was diagnosed at birth and infection-free before transplant, underwent an uneventful transplant. Early transplant within the first 3 months of life results in over 90% disease-free survival. Newborn screening is now being pursued to achieve this goal. Keyword : Haematopoietic stem cell transplantation; Haemolytic anaemia; Pneumatosis intestinalis; Severe combined immunodeficiency; Transplant outcome Abstract in Chinese
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