Complete interferon gamma 1 receptor deficiency is a rare primary immunodeficiency characterized by increased susceptibility to severe and recurrent mycobacterial infections, as well as other intracellular infections. Treatment with IFN-γ is generally ineffective, with a high rate of early death in infants and young children. Hematopoietic stem cell transplantation (HSCT) could provide the possibility of curative treatment in otherwise refractory cases.
The aim of this study was to report the results of HSCT for IFNγR1 receptor deficiency.
A retrospective study including two patients who underwent HSCT for IFNγR1 receptor deficiency.
The first patient was diagnosed at 5 months with BCG disease. The second patient was diagnosed at 10 months with BCG disease. The two patients received an HSCT from a matched related donor at 40 months and 29 months, respectively. Conditioning regimen included fludarabine and Busilvex. GVHD prophylaxis included cyclosporine A and methotrexate. Anti-lymphocyte serum was received by the two patients. Engraftment was achieved in the two cases, BCG disease cured and no GVHD was observed. At last follow-up, they were 12 years old and 3 years old, respectively. They were infection free with a full donor chimerism.
HSCT represents a promising and potentially curative therapeutic alternative for patients with IFNγR1 receptor deficiency. Although this approach is complex and requires rigorous management, it can significantly improve the prognosis of these patients. The reported cases show that BMT can offer a miraculous solution for patients with refractory disease, and we encourage its exploration in other similar settings.
