PYT Chan, MHK Ho, DKL Cheuk, TL Lee, SY Ha, YL Lau

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.

造血幹細胞移植是治療患有重症複合免疫缺陷（SCID）的兒童的根治性治療方法。第一例成功移植是在40年前。我們報導一對患有X-連鎖重症複合免疫缺陷的兄弟，在接受造血幹細胞移植後有非常不同的結果。胞兄確診時間較遲，在接受移植前發生多重感染，在接受移植後出現嚴重的移植物抗宿主病和致命的溶血性貧血，後死於敗血症。胞弟在出生時已確診此病症，在移植前未受任何感染，移植過程順利。患兒在出生後3個月內進行移植，無疾病存活期可高達90%以上。目前來說，進行新生兒篩查可達到這個目標。