Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC

被引：34

作者：

Cuvelier, Geoffrey D. E. ^{[1
]}

Logan, Brent R. ^{[2
]}

Prockop, Susan E. ^{[3
]}

Buckley, Rebecca H. ^{[4
]}

Kuo, Caroline Y. ^{[5
]}

Griffith, Linda M. ^{[6
]}

Liu, Xuerong ^{[2
]}

Yip, Alison ^{[7
]}

Hershfield, Michael S. ^{[4
]}

Ayoub, Paul G. ^{[8
]}

Moore, Theodore B. ^{[9
]}

Dorsey, Morna J. ^{[7
]}

O'Reilly, Richard J. ^{[10
]}

Kapoor, Neena ^{[11
]}

Pai, Sung-Yun ^{[12
]}

Kapadia, Malika ^{[13
]}

Ebens, Christen L. ^{[14
]}

Satter, Lisa R. Forbes ^{[15
]}

Burroughs, Lauri M. ^{[16
,17
]}

Petrovic, Aleksandra ^{[16
,17
]}

Chellapandian, Deepak ^{[18
]}

Heimall, Jennifer ^{[19
]}

Shyr, David C. ^{[20
]}

Rayes, Ahmad ^{[21
]}

Bednarski, Jeffrey J. ^{[22
]}

Chandra, Sharat ^{[23
]}

Chandrakasan, Shanmuganathan ^{[24
]}

Gillio, Alfred P. ^{[25
]}

Madden, Lisa ^{[26
]}

Quigg, Troy C. ^{[27
]}

Caywood, Emi H. ^{[28
]}

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

DeSantes, Kenneth ^{[30
]}

Eissa, Hesham ^{[31
]}

Goldman, Frederick D. ^{[32
]}

Rozmus, Jacob ^{[33
]}

Shah, Ami J. ^{[20
]}

Vander Lugt, Mark T. ^{[34
]}

Thakar, Monica S. ^{[16
,17
]}

Parrott, Roberta E. ^{[4
]}

Martinez, Caridad ^{[35
]}

Leiding, Jennifer W. ^{[36
]}

Torgerson, Troy R. ^{[37
]}

Pulsipher, Michael A. ^{[38
]}

Notarangelo, Luigi D. ^{[39
]}

Cowan, Morton J. ^{[7
]}

Dvorak, Christopher C. ^{[7
]}

Haddad, Elie ^{[40
]}

Puck, Jennifer M. ^{[7
]}

Kohn, Donald B. ^{[8
]}

机构：

[1] Univ Manitoba, CancerCare Manitoba, Manitoba Blood & Marrow Transplant Program, Winnipeg, MB, Canada

[2] Med Coll Wisconsin, Div Biostat, Milwaukee, WI 53226 USA

[3] Boston Childrens Hosp, Stem Cell Transplant Serv, Dana Farber Canc Inst, Boston, MA USA

[4] Duke Univ Med Ctr, Durham, NC USA

[5] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Div Allergy Immunol Rheumatol, Los Angeles, CA 90095 USA

[6] NIAID, Div Allergy Immunol & Transplantat, NIA, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[7] Univ Calif San Francisco, Benioff Childrens Hosp, San Francisco, CA 94143 USA

[8] Univ Calif Los Angeles, Microbiol Immunol & Mol Genet, Los Angeles, CA USA

[9] Univ Calif Los Angeles, Mattel Childrens Hosp, Dept Pediat Hematol Oncol, Los Angeles, CA USA

[10] Mem Sloan Kettering Canc Ctr, MSK Kids, Stem Cell Transplantat & Cellular Therapy, 1275 York Ave, New York, NY 10021 USA

[11] Childrens Hosp, Div Hematol Oncol & Blood & Marrow Transplant, Los Angeles, CA USA

[12] NCI, Immune Deficiency Cellular Therapy Program, Ctr Canc Res, Bethesda, MD 20892 USA

[13] Boston Childrens Hosp, Dana Farber Canc Inst, Boston, MA USA

[14] MHlth Fairview Masonic Childrens Hosp, Div Pediat Blood & Marrow Transplant & Cellular T, Minneapolis, MN USA

[15] Texas Childrens Hosp, Baylor Coll Med, Immunol Allergy & Retrovirol, Houston, TX 77030 USA

[16] Univ Washington, Dept Pediat, Fred Hutchinson Canc Res Ctr, Seattle, WA 98195 USA

[17] Seattle Childrens Hosp, Seattle, WA USA

[18] Johns Hopkins All Childrens Hosp, Ctr Cell & Gene Therapy Nonmalignant Condit, St Petersburg, FL USA

[19] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Dept Pediat,Div Allergy & Immunol, Philadelphia, PA 19104 USA

[20] Lucile Packard Childrens Hosp, Stanford Sch Med, Div Hematol Oncol Stem Cell Transplantat & Regene, Palo Alto, CA USA

[21] Univ Utah, Primary Childrens Hosp, Salt Lake City, UT USA

[22] Washington Univ, St Louis Childrens Hosp, St Louis, MO 63110 USA

[23] Univ Cincinnati, Coll Med, Dept Pediat,Div Bone Marrow Transplantat & Immune, Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA

[24] Childrens Hosp Atlanta, Bone Marrow Transplantat & Immune Deficiency, Atlanta, GA USA

[25] Hackensack Univ Med Ctr, Childrens Canc Inst, Hackensack, NJ USA

[26] Methodist Childrens Hosp South Texas, San Antonio, TX USA

[27] Michigan State Univ, Pediat Blood & Marrow Transplant & Cellular Thera, Helen DeVos Childrens Hosp, Coll Human Med, Grand Rapids, MI USA

[28] Thomas Jefferson Univ, Nemours Childrens Hlth, Wilmington, DE USA

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

[30] Univ Wisconsin, Amer Family Childrens Hosp, Div Pediat Hematol Oncol & Bone Marrow Transplant, Madison, WI USA

[31] Div Pediat Hematol Oncol BMT, Aurora, CO USA

[32] Univ Alabama Birmingham, Div Pediat Hematol & Oncol & Bone Marrow Transpla, Birmingham, AL USA

[33] British Columbia Childrens Hosp, Vancouver, BC, Canada

[34] Univ Michigan, Blood & Marrow Transplant Program, Ann Arbor, MI 48109 USA

[35] Texas Childrens Hosp, Baylor Coll Med, Hematol Oncol BMT, Houston, TX USA

[36] Johns Hopkins Univ, Div Allergy & Immunol, St Petersburg, FL USA

[37] Allen Inst Immunol, Seattle, WA USA

[38] Univ Utah, Div Pediat Hematol & Oncol, Intermt Primary Childrens Hosp, Huntsman Canc Inst,Spencer Fox Eccles Sch Med, Salt Lake City, UT USA

[39] NIAID, Lab Clin Immunol & Microbiol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[40] Univ Montreal, Dept Pediat, Ctr Hosp Univ CHU St Justine, Montreal, PQ, Canada

来源：

BLOOD | 2022年 / 140卷 / 07期

基金：

美国国家卫生研究院;

关键词：

ADENOSINE-DEAMINASE DEFICIENCY; STEM-CELL TRANSPLANTATION; PULMONARY ALVEOLAR PROTEINOSIS; BONE-MARROW-TRANSPLANTATION; ENZYME REPLACEMENT THERAPY; GENE-THERAPY; BEHAVIORAL ABNORMALITIES; SENSORINEURAL DEAFNESS; SOYBEAN AGGLUTININ; MYELOID DYSPLASIA;

D O I：

10.1182/blood.2022016196

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Adenosine deaminase (ADA) deficiency causes similar to 13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). We evaluated 131 patients with ADA-SCID diagnosed between 1982 and 2017 who were enrolled in the Primary Immune Deficiency Treatment Consortium SCID studies. Baseline clinical, immunologic, genetic characteristics, and treatment outcomes were analyzed. First definitive cellular therapy (FDCT) included 56 receiving HCT without preceding ERT (HCT); 31 HCT preceded by ERT (ERT-HCT); and 33 GT preceded by ERT (ERT-GT). Five-year event-free survival (EFS, alive, no need for further ERT or cellular therapy) was 49.5% (HCT), 73% (ERT-HCT), and 75.3% (ERT-GT; P < .01). Overall survival (OS) at 5 years after FDCT was 72.5% (HCT), 79.6% (ERT-HCT), and 100% (ERT-GT; P = .01). Five-year OS was superior for patients undergoing HCT at <3.5 months of age (91.6% vs 68% if >= 3.5 months, P = .02). Active infection at the time of HCT (regardless of ERT) decreased 5-year EFS (33.1% vs 68.2%, P < .01) and OS (64.7% vs 82.3%, P = .02). Five-year EFS (90.5%) and OS (100%) were best for matched sibling and matched family donors (MSD/MFD). For patients treated after the year 2000 and without active infection at the time of FDCT, no difference in 5-year EFS or OS was found between HCT using a variety of transplant approaches and ERT-GT. This suggests alternative donor HCT may be considered when MSD/MFD HCT and GT are not available, particularly when newborn screening identifies patients with ADA-SCID soon after birth and before the onset of infections. This trial was registered at www.clinicaltrials.gov as #NCT01186913 and #NCT01346150.

引用

页码：685 / 705

页数：21

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