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

Ref ID: 18543

Author:

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)

Full conference title:

Annual Meeting of the EBMT, 38th

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 <20% NOB and is awaiting further HSCT 6 years after umbilical cord stem cell transplant. All patients with greater than 2 years follow up have shown a response to primary childhood vaccinations. None require antifungal prophylaxis and 2 are on long term antibiotic prophylaxis. Conclusions: HSCT is curative for CGD with 85% survival in this cohort and good long term graft function, restoring neutrophil function and responding to vaccination. Infl ammatory colitis also resolves post transplant. Survival is related to severity of complications pre-HSCT and hence age at HSCT. HSCT should be considered in the early management of CGD, particularly when there is a well matched donor.

Abstract Number: O332

Conference Year: 2012

Link to conference website: NULL

New link: NULL

Conference abstracts, posters & presentations

Showing 10 posts of 17325 posts found.

  • Title

    Author

    Year

    Number

    Poster