Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.
Interferon gamma receptor deficiency is a rare autosomal recessive inherited disorder, with poor prognosis due to early-onset, recurrent, and disseminated mycobacterial infections. Hematopoietic stem cell transplantation (HSCT), the only curative treatment, is particularly difficult in these patients owing to a high rate of graft rejection. We report the first successful hematopoietic stem cell transplantation with an unrelated donor, performed in a schoolgirl with severe interferon gamma receptor 1deficiency caused by a novel mutation.
Moilanen
Petra
P
Pediatric Research Center, University Hospital, Tampere University, Tampere, Finland.
Korppi
Matti
M
Hovi
Liisa
L
Chapgier
Ariane
A
Feinberg
Jacqueline
J
Kong
Xiao-Fei
XF
Boisson-Dupuis
Stéphanie
S
Arola
Mikko
M
Casanova
Jean-Laurent
JL
Saarinen-Pihkala
Ulla M
UM
D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D002648:Child; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis; D015269:Mycobacterium avium Complex / Q000302:isolation & purification; D015270:Mycobacterium avium-intracellulare Infection / Q000175:diagnosis* / Q000628:therapy*; D017471:Receptors, Interferon / Q000172:deficiency*; D016896:Treatment Outcome; D000096743:Interferon gamma Receptor
D000900:Anti-Bacterial Agents; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor