{Reference Type}: Journal Article
{Title}: Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A  Primary Immune Deficiency Treatment Consortium study.
{Author}: Grunebaum E;Arnold DE;Logan B;Parikh S;Marsh RA;Griffith LM;Mallhi K;Chellapandian D;Lim SS;Deal CL;Kapoor N;Murguía-Favela L;Falcone EL;Prasad VK;Touzot F;Bleesing JJ;Chandrakasan S;Heimall JR;Bednarski JJ;Broglie LA;Chong HJ;Kapadia M;Prockop S;Dávila Saldaña BJ;Schaefer E;Bauchat AL;Teira P;Chandra S;Parta M;Cowan MJ;Dvorak CC;Haddad E;Kohn DB;Notarangelo LD;Pai SY;Puck JM;Pulsipher MA;Torgerson TR;Malech HL;Kang EM;Leiding JW;
{Journal}: J Allergy Clin Immunol
{Volume}: 153
{Issue}: 5
{Year}: 2024 May 28
{Factor}: 14.29
{DOI}: 10.1016/j.jaci.2024.01.013
{Abstract}: <B>BACKGROUND: </B>P47phox (neutrophil cytosolic factor-1) deficiency is the most common cause of autosomal recessive chronic granulomatous disease (CGD) and is considered to be associated with a milder clinical phenotype. Allogeneic hematopoietic cell transplantation (HCT) for p47phox CGD is not well-described.<BR><B>OBJECTIVE: </B>We sought to study HCT for p47phox CGD in North America.<BR><B>METHODS: </B>Thirty patients with p47phox CGD who received allogeneic HCT at Primary Immune Deficiency Treatment Consortium centers since 1995 were included.<BR><B>RESULTS: </B>Residual oxidative activity was present in 66.7% of patients. In the year before HCT, there were 0.38 CGD-related infections per person-years. Inflammatory diseases, predominantly of the lungs and bowel, occurred in 36.7% of the patients. The median age at HCT was 9.1 years (range 1.5-23.6 years). Most HCTs (90%) were performed after using reduced intensity/toxicity conditioning. HCT sources were HLA-matched (40%) and -mismatched (10%) related donors or HLA-matched (36.7%) and -mismatched (13.3%) unrelated donors. CGD-related infections after HCT decreased significantly to 0.06 per person-years (P = .038). The frequency of inflammatory bowel disease and the use of steroids also decreased. The cumulative incidence of graft failure and second HCT was 17.9%. The 2-year overall and event-free survival were 92.3% and 82.1%, respectively, while at 5 years they were 85.7% and 77.0%, respectively. In the surviving patients evaluated, ≥95% donor myeloid chimerism at 1 and 2 years after HCT was 93.8% and 87.5%, respectively.<BR><B>CONCLUSIONS: </B>Patients with p47phox CGD suffer from a significant disease burden that can be effectively alleviated by HCT. Similar to other forms of CGD, HCT should be considered for patients with p47phox CGD.