%0 Journal Article
%T Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A  Primary Immune Deficiency Treatment Consortium study.
%A Grunebaum E
%A Arnold DE
%A Logan B
%A Parikh S
%A Marsh RA
%A Griffith LM
%A Mallhi K
%A Chellapandian D
%A Lim SS
%A Deal CL
%A Kapoor N
%A Murguía-Favela L
%A Falcone EL
%A Prasad VK
%A Touzot F
%A Bleesing JJ
%A Chandrakasan S
%A Heimall JR
%A Bednarski JJ
%A Broglie LA
%A Chong HJ
%A Kapadia M
%A Prockop S
%A Dávila Saldaña BJ
%A Schaefer E
%A Bauchat AL
%A Teira P
%A Chandra S
%A Parta M
%A Cowan MJ
%A Dvorak CC
%A Haddad E
%A Kohn DB
%A Notarangelo LD
%A Pai SY
%A Puck JM
%A Pulsipher MA
%A Torgerson TR
%A Malech HL
%A Kang EM
%A Leiding JW
%J J Allergy Clin Immunol
%V 153
%N 5
%D 2024 May 28
%M 38290608
%F 14.29
%R 10.1016/j.jaci.2024.01.013
%X <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.