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Unrelated donor and HLA‐identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long‐term outcome and growth
Author(s) -
Soncini Elena,
Slatter Mary A.,
Jones Laura B. K. R.,
Hughes Stephen,
Hodges Stephen,
Flood Terence J.,
Barge Dawn,
Spickett Gavin P.,
Jackson Graham H.,
Collin Matthew P.,
Abinun Mario,
Cant Andrew J.,
Gennery Andrew R.
Publication year - 2009
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2009.07614.x
Subject(s) - medicine , hematopoietic stem cell transplantation , chronic granulomatous disease , transplantation , colitis , inflammatory bowel disease , incidence (geometry) , graft versus host disease , disease , gastroenterology , immunology , physics , optics
Summary Chronic granulomatous disease (CGD) causes recurrent infection and inflammatory disease. Despite antimicrobial prophylaxis, patients experience frequent hospitalisations and 50% mortality by 30 years. Haematopoietic stem cell transplantation (HSCT) can cure CGD with resolution of infection and colitis. This study reports the survival and long‐term outcome in 20 conditioned patients treated between 1998 and 2007, using 10 matched sibling (MSD) and 10 unrelated donors (URD). Age at HSCT, graft‐ versus ‐host disease (GvHD), growth, and outcome were analysed. Fourteen had ≥1 invasive infection, 10 had colitis and seven had growth failure before HSCT. Median age at transplantation was 75 months (range 15 months–21 years). Eighteen (90%) were alive 4–117 months (median 61) after HSCT with normal neutrophil function. Two died from disseminated fungal infection. Two experienced significant chronic GvHD, with continuing sequelae in 1. Colitis resolved within 8 weeks of HSCT. Mean weight and height for age Z scores on recovery from HSCT rose significantly ( P < 0·001). HSCT with MSD or URD gave excellent engraftment and survival, remission of colitis and catch‐up growth, with low incidence of significant GvHD. Transplant‐associated complications were restricted to those with pre‐existing infection or inflammation, supporting the argument for early HSCT for more CGD patients with a well matched donor.