The following is a summary of “Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: a PIDTC study,” published in the January 2024 issue of Allergy and Immunology by Grunebaum et al.
Chronic granulomatous disease (CGD) arising from P47phox deficiency, the most prevalent cause of autosomal recessive CGD with a typically milder clinical profile, prompts consideration of allogeneic hematopoietic cell transplantation (HCT) as an intervention. To comprehensively understand the outcomes of HCT for P47phox CGD, researchers conducted a study encompassing 30 patients treated at Primary Immune Deficiency Treatment Consortium (PIDTC) centers in North America since 1995. Notably, 66.7% of patients retained residual oxidative activity, with the year preceding HCT reflecting 0.38 CGD-related infections/person-years.
Inflammatory conditions, primarily affecting the lungs and bowel, manifested in 36.7% of patients. The median age at HCT was 9.1 years, and 90% of HCTs were executed with reduced intensity/toxicity conditioning. HCT sources included HLA-matched and -mismatched related donors (40% and 10%, respectively) and HLA-matched and -mismatched unrelated donors (36.7% and 13.3%, respectively). Post-HCT, CGD-related infections significantly reduced to 0.06/person-years (p=0.038), accompanied by decreased occurrences of inflammatory bowel disease and steroid use.
The cumulative incidence of graft failure and second HCT was 17.9%. Achieving a 2-year overall survival of 92.3% and event-free survival of 82.1%, the rates at 5 years were 85.7% and 77.0%, respectively. Evaluation of surviving patients revealed >95% donor myeloid chimerism at 1 and 2 years post-HCT, reaching 93.8% and 87.5%, respectively. This study underscores the substantial disease burden in P47phox CGD and highlights the effectiveness of HCT in mitigating its impact. In line with the approach for other forms of CGD, HCT should be contemplated as a viable therapeutic avenue for patients with P47phox CGD.
Source: sciencedirect.com/science/article/abs/pii/S0091674924000812