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

共 50 条

[21] Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report
Engel, Barbara C.
Podsakoff, Greg M.
Ireland, Joanna L.
Smogorzewska, E. Monika
Carbonaro, Denise A.
Wilson, Kathy
Shah, Ami
Kapoor, Neena
Sweeney, Mirna
Borchert, Mark
Crooks, Gay M.
Weinberg, Kenneth I.
Parkman, Robertson
Rosenblatt, Howard M.
Wu, Shi-Qi
Hershfield, Michael S.
Candotti, Fabio
Kohn, Donald B.
BLOOD, 2007, 109 (02) : 503 - 506
[22] Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID)
Booth, Claire
Gaspar, H. Bobby
BIOLOGICS-TARGETS & THERAPY, 2009, 3 : 349 - 358
[23] Long-term efficacy of enzyme replacement therapy for Adenosine deaminase (ADA)-deficient Severe Combined Immunodeficiency (SCID)
Chan, B
Wara, D
Bastian, J
Hershfield, MS
Bohnsack, J
Azen, CG
Parkman, R
Weinberg, K
Kohn, DB
CLINICAL IMMUNOLOGY, 2005, 117 (02) : 133 - 143
[24] A report of two new mutations in RAG1 and ADA genes in severe combined immunodeficiency disease
Shakerian, L.
Badalzadeh, M.
Fazlollahi, M.
Nourizadeh, M.
Houshmand, M.
Behfar, M.
Mahdaviani, S.
Hamidieh, A.
Pourpak, Z.
ALLERGY, 2017, 72 : 617 - 617
[25] REGIONAL DEFICIENCY OF SECRETORY IGA IN A PATIENT WITH COMBINED IMMUNODEFICIENCY OF THE ADA DEFICIENT TYPE
MOORE, EC
LAFFIN, RJ
TOMASI, T
PICKERING, RJ
RADL, J
MEUWISSEN, HJ
ACTA PAEDIATRICA SCANDINAVICA, 1979, 68 (03): : 453 - 458
[26] TRANSFER OF THE ADA GENE INTO BONE-MARROW CELLS AND PERIPHERAL-BLOOD LYMPHOCYTES FOR THE TREATMENT OF PATIENTS AFFECTED BY ADA-DEFICIENT SCID
BORDIGNON, C
HUMAN GENE THERAPY, 1993, 4 (04) : 513 - 520
[27] JAK3-deficient severe combined immunodeficiency
Notarangelo, LD
Candotti, F
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA, 2000, 20 (01) : 97 - +
[28] Severe Combined Immunodeficiency - Case Report
Moreira, Iramirton Figueredo
Nobre, Gabriela Carvalho
de Carvalho Tomaz Flores, Larissa Rocha Gomes
Vieira Goes, Larissa Clara
de Souza Junior, Joao Lourival
Barreiros, Lucila Akune
Spina, Fernanda Garcia
JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 : S47 - S47
[29] Newborn screening has improved the survival of infants with severe combined immunodeficiency (SCID) - a Primary Immune Deficiency Treatment Consortium (PIDTC) study
Thakar, Monica
Logan, Brent R.
Puck, Jennifer
Dunn, Elizabeth
Buckley, Rebecca
Cowan, Morton
Pai, Sung-Yun
Heimall, Jennifer
Pulsipher, Michael
Griffith, Linda
Haddad, Elie
Dvorak, Christopher C.
Notarangelo, Luigi
CLINICAL IMMUNOLOGY, 2023, 250
[30] Outcomes Following Hematopoietic Cell Transplant for CD3δ Severe Combined Immune Deficiency: a PIDTC Natural History Study
Kalashnikova, Tatiana
Cuvelier, Geoff
Logan, Brent
Grunebaum, Eyal
Guilcher, Gregory
Lewis, Victor
McAuley, Grace
Marwaha, Ashish
Murguia-Favela, Luis
Prince, Bradley
Romero, Zulema
Rubin, Tamar
Suresh, Sneha
Buckley, Rebecca
Dvorak, Christopher
Satter, Lisa
Aquino, Victor
Bunin, Nancy
Joshi, Avni
Prokop, Susan
Heimall, Jennifer
Haddad, Elie
Leiding, Jennifer
Puck, Jennifer
Burroughs, Lauri
Griffith, Linda
Notarangelo, Luigi
Pulsipher, Michael
Cowan, Morton
Marsh, Rebecca
Pai, Sung-Yun
Torgerson, Troy
Kohn, Donald B.
Wright, Nicola
CLINICAL IMMUNOLOGY, 2024, 262

← 1 2 3 4 5 →