Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey.
OBJECTIVE
To evaluate the outcome of hematopoietic stem cell transplantation (HSCT) in a series of patients with inherited complete IFN-gamma receptor 1 (IFNgammaR1) deficiency.


METHODS
We report 8 patients who received altogether 11 HSCT from family donors, including 10 HLA-identical (5 siblings and 5 relatives) and 1 HLA-haplo-identical donors. Five grafts were T-cell depleted, and conditioning regimens varied in intensity.


RESULTS
Four patients died within 8 months after HSCT. Two of these deaths were due to specific complications related to mycobacterial infection. There was no or very low (2%) donor cell engraftment in 2 survivors. Only 2 patients are in full remission of mycobacterial disease 5 years after HSCT. These are the only patients who received non-T-cell-depleted grafts from an HLA-identical sibling after a fully myeloablative conditioning regimen.


CONCLUSIONS
HSCT can lead to prolonged remission of mycobacterial disease in children with complete IFNgammaR1 deficiency. However, optimal control of mycobacterial infection before HSCT and the use of a non-T-cell-depleted transplant from an HLA-identical sibling after a fully myeloablative conditioning regimen are recommended.
Roesler
Joachim
J
Department of Pediatrics and the Department of Internal Medicine, University Clinic Carl Gustav Carus, Dresden, Germany. roeslerj@rcs.urz.tu-dresden.de
Horwitz
Mitchell E
ME
Picard
Capucine
C
Bordigoni
Pierre
P
Davies
Graham
G
Koscielniak
Ewa
E
Levin
Mike
M
Veys
Paul
P
Reuter
Ursula
U
Schulz
Ansgar
A
Thiede
Christian
C
Klingebiel
Thomas
T
Fischer
Alain
A
Holland
Steven M
SM
Casanova
Jean-Laurent
JL
Friedrich
Wilhelm
W
D002648:Child; D002675:Child, Preschool; D005260:Female; D006086:Graft vs Host Disease; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D015337:Multicenter Studies as Topic; D009154:Mutation; D009164:Mycobacterium Infections / Q000150:complications* / Q000235:genetics / Q000401:mortality; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics; D019172:Transplantation Conditioning / Q000379:methods*; D016896:Treatment Outcome; D000096743:Interferon gamma Receptor
D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor