O332 Outcome of haematopoietic stem cell transplantation in patients with chronic granulomatous disease at a national centre

J. Lane (1), M. Slatter (1), Z. Nademi (2), P. Tierney (2), D. Barge (1), S. Hambleton (1), T. Flood (2), A. Cant (2), M. Abinun (2), G. Jackson (1), M. Collin (1), A. Gennery (1)

Author address: 

(1)Newcastle University (Newcastle upon Tyne, UK); (2)Newcastle upon Tyne Hospital NHS Foundation Trust (Newcastle upon Tyne, UK)

Abstract: 

Introduction: Chronic Granulomatous Disease (CGD) is a rare X-linked or autosomal recessive inherited primary immuno-S69 defi ciency leading to multiple opportunistic infections, abscesses and infl ammation. 55% survive to 30 years old. HSCT offers curative treatment in patients with severe and life threatening complications from the disease. Methods: Retrospective analysis of case notes of all CGD patients who underwent HSCT in Newcastle Upon Tyne Hospitals NHS Trust. Results: 41 patients have undergone HSCT for CGD since 1997; 35 survived and 6 died (1 during conditioning). Median age at diagnosis and HSCT were 3.21 (range 0-16) and 8.38 (range 0.75-27.2) years respectively. 3 patients were adults (>18 years) at time of transplant. 2 of 6 patients who died had active fungal infection at time of transplant and 1 other died from pulmonary haemorrhage following aspergilloma. Median age at HSCT of those who survived was 7.17 years (range 0.75-16.9) and those who died was 18 years (range 8.33-27.2). 39 patients had had an infection prior to transplant, the commonest being pneumonia or lung abscesses, lymphadenitis and perianal or gluteal abscesses. Aspergillus spp. were the most common organisms isolated, followed by Staphylococcus aureus. 26 patients had CDG-associated colitis prior to transplantation. 40 patients received HSCT, 2 underwent a further transplant due to graft failure and 3 required top-up stem cell transfusions. 15 patients had GvHD, 15 skin (I-II), 4 liver and 2 gut. 6 patients developed chronic GvHD, 1 of whom died. 2 remain on immunosuppression. 1 patient had recurrence of colitis. 28 patients have normal neutrophil oxidative burst (NOB; >95%) after transplant, 6 have a dual population of neutrophils but are clinically normal and 1 patient has
2012

abstract No: 

O332

Full conference title: 

Annual Meeting of the EBMT, 38th
    • EBMT 38th (2012)