Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study

被引：3

作者：

Grunebaum, Eyal ^{[1
]}

Arnold, Danielle E. ^{[2
]}

Logan, Brent ^{[3
,4
]}

Parikh, Suhag ^{[5
,6
]}

Marsh, Rebecca A. ^{[7
,8
,9
]}

Griffith, Linda M. ^{[10
]}

Mallhi, Kanwaldeep ^{[11
]}

Chellapandian, Deepak ^{[12
]}

Lim, Stephanie Si ^{[13
]}

Deal, Christin L. ^{[14
]}

Kapoor, Neena ^{[15
,16
]}

Murguia-Favela, Luis ^{[17
]}

Falcone, Emilia Liana ^{[18
,19
]}

Prasad, Vinod K. ^{[20
]}

Touzot, Fabien ^{[21
]}

Bleesing, Jack J. ^{[7
,8
]}

Chandrakasan, Shanmuganathan ^{[5
,6
]}

Heimall, Jennifer R. ^{[22
,23
]}

Bednarski, Jeffrey J. ^{[24
]}

Broglie, Larisa A. ^{[4
,25
]}

Chong, Hey Jin ^{[14
]}

Kapadia, Malika ^{[26
,27
]}

Prockop, Susan ^{[26
,27
]}

Saldana, Blachy J. Davila ^{[28
,29
,30
]}

Schaefer, Edo ^{[31
]}

Bauchat, Andrea L. ^{[20
]}

Teira, Pierre ^{[32
,33
,34
]}

Chandra, Sharat ^{[7
,8
]}

Parta, Mark ^{[43
]}

Cowan, Morton J. ^{[35
]}

Dvorak, Christopher C. ^{[35
]}

Haddad, Elie ^{[32
,33
]}

Kohn, Donald B. ^{[36
]}

Notarangelo, Luigi D. ^{[37
]}

Pai, Sung-Yun ^{[2
]}

Puck, Jennifer M. ^{[35
]}

Pulsipher, Michael A. ^{[38
,39
]}

Torgerson, Troy R. ^{[40
]}

Malech, Harry L. ^{[37
,41
]}

Kang, Elizabeth M. ^{[37
,41
]}

Leiding, Jennifer W. ^{[42
]}

机构：

[1] Hosp Sick Children, Div Immunol & Allergy, Toronto, ON, Canada

[2] NCI, Immune Deficiency Cellular Therapy Program, Ctr Canc Res, Bethesda, MD USA

[3] Med Coll Wisconsin, Inst Hlth & Equ, Div Biostat, Milwaukee, WI USA

[4] Ctr Int Blood & Marrow Transplant Res, Milwaukee, WI USA

[5] Emory Univ, Sch Med, Dept Pediat, Atlanta, GA USA

[6] Childrens Healthcare Atlanta, Aflac Canc & Blood Disorders Ctr, Atlanta, GA USA

[7] Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

[8] Cincinnati Childrens Hosp Med Ctr, Div Bone Marrow Transplantat & Immune Deficiency, Cincinnati, OH USA

[9] Pharming Healthcare Inc, Warren, NJ USA

[10] NIAID, Div Allergy Immunol & Transplantat, NIH, Bethesda, MD USA

[11] Univ Washington, Seattle Childrens Hosp, Fred Hutchinson Canc Res Ctr, Sch Med, Seattle, WA USA

[12] Johns Hopkins All Childrens Hosp, Canc & Blood Disorders Inst, St Petersburg, FL USA

[13] Kapiolani Med Ctr Women & Children, Div Pediat Haematol & Oncol, Honolulu, HI USA

[14] Univ Pittsburgh, Childrens Hosp Pittsburgh, Med Ctr, Div Allergy & Immunol, Pittsburgh, PA USA

[15] Univ Southern Calif, Keck Sch Med, Dept Pediat, Transplant & Cell Therapy Program & Lab, Los Angeles, CA USA

[16] Childrens Hosp Los Angeles, Hematol Oncol & Transplant & Cell Therapy, Los Angeles, CA USA

[17] Alberta Childrens Hosp Calgary, Dept Pediat, Sect Hematol Immunol, Calgary, AB, Canada

[18] Montreal Clin Res Inst, Ctr Immun Inflammat & Infect Dis, Montreal, PQ, Canada

[19] Univ Montreal, Dept Med, Montreal, PQ, Canada

[20] Duke Univ, Med Ctr, Div Pediat Transplant & Cellular Therapy, Durham, NC USA

[21] Univ Montreal, Dept Pediat, Immunol & Rheumatol Div, CHU Ste Justine, Montreal, PQ, Canada

[22] Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA

[23] Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA USA

[24] Washington Univ, Sch Med, Dept Pediat, St Louis, MO USA

[25] Med Coll Wisconsin, Dept Pediat, Div Pediat Hematol Oncol Blood & Marrow Transplan, Milwaukee, WI USA

[26] Dana Farber Boston Childrens Canc & Blood Disorde, Boston, MA USA

[27] Harvard Med Sch, Dept Pediat, Boston, MA USA

[28] George Washington Univ, Dept Pediat, Sch Med & Hlth Sci, Washington, DC USA

[29] Childrens Natl Hosp, Div Blood & Marrow Transplantat, Washington, DC USA

[30] Childrens Natl Hosp, Ctr Canc & Immunol Res, Washington, DC USA

[31] New York Med Coll, Div Pediat Hematol Oncol & Stem Cell Transplantat, Valhalla, NY USA

[32] Univ Montreal, Dept Pediat, Montreal, PQ, Canada

[33] Univ Montreal, Dept Microbiol Immunol & Infect Dis, Montreal, PQ, Canada

[34] Univ Montreal, Ctr Hosp Univ St Justine, Montreal, PQ, Canada

[35] Univ Calif San Francisco, UCSF Benioff Childrens Hosp, Div Pediat Allergy Immunol & Blood & Marrow Trans, San Francisco, CA USA

[36] Univ Calif Los Angeles, Dept Microbiol Immunol & Mol Genet, Dept Pediat, Div Pediat Hematol Oncol, Los Angeles, CA USA

[37] NIAID, Lab Clin Immunol & Microbiol, NIH, Bethesda, MD USA

[38] Univ Utah, Pediat Immunol & Blood & Marrow Transplant Progra, Salt Lake City, UT USA

[39] Intermt Primary Childrens Hosp, Salt Lake City, UT USA

[40] Allen Inst Immunol, Expt Immunol, Seattle, WA USA

[41] NIAID, Genet Immunotherapy Sect, Lab Clin Immunol & Microbiol, NIH, Bethesda, MD USA

[42] Johns Hopkins Univ, Dept Pediat, Div Allergy & Immunol, Baltimore, MD USA

[43] Frederick Natl Lab Canc Res, Clin Res Directorate, Bethesda, MD USA

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2024年 / 153卷 / 05期

基金：

美国国家卫生研究院; 加拿大健康研究院;

关键词：

Allogeneic hematopoietic cell transplantation; chronic granulomatous disease; p47phox;

D O I：

10.1016/j.jaci.2024.01.013

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Background: 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. Objectives: We sought to study HCT for p47phox CGD in North America. Methods: Thirty patients with p47phox CGD who received allogeneic HCT at Primary Immune Deficiency Treatment Consortium centers since 1995 were included. Results: 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 HLAmatched (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 5 .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. Conclusions: 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.

引用

页码：1423 / 1431.e2

页数：11

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