Skip to main content
construction release_alert
Scholars@Duke will be undergoing maintenance April 11-15. Some features may be unavailable during this time.
cancel

Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.

Publication ,  Journal Article
Heimall, J; Logan, BR; Cowan, MJ; Notarangelo, LD; Griffith, LM; Puck, JM; Kohn, DB; Pulsipher, MA; Parikh, S; Martinez, C; Kapoor, N; Yin, Z ...
Published in: Blood
December 21, 2017

The Primary Immune Deficiency Treatment Consortium (PIDTC) is enrolling children with severe combined immunodeficiency (SCID) to a prospective natural history study. We analyzed patients treated with allogeneic hematopoietic cell transplantation (HCT) from 2010 to 2014, including 68 patients with typical SCID and 32 with leaky SCID, Omenn syndrome, or reticular dysgenesis. Most (59%) patients were diagnosed by newborn screening or family history. The 2-year overall survival was 90%, but was 95% for those who were infection-free at HCT vs 81% for those with active infection (P = .009). Other factors, including the diagnosis of typical vs leaky SCID/Omenn syndrome, diagnosis via family history or newborn screening, use of preparative chemotherapy, or the type of donor used, did not impact survival. Although 1-year post-HCT median CD4 counts and freedom from IV immunoglobulin were improved after the use of preparative chemotherapy, other immunologic reconstitution parameters were not affected, and the potential for late sequelae in extremely young infants requires additional evaluation. After a T-cell-replete graft, landmark analysis at day +100 post-HCT revealed that CD3 < 300 cells/μL, CD8 < 50 cells/μL, CD45RA < 10%, or a restricted Vβ T-cell receptor repertoire (<13 of 24 families) were associated with the need for a second HCT or death. In the modern era, active infection continues to pose the greatest threat to survival for SCID patients. Although newborn screening has been effective in diagnosing SCID patients early in life, there is an urgent need to identify validated approaches through prospective trials to ensure that patients proceed to HCT infection free. The trial was registered at www.clinicaltrials.gov as #NCT01186913.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Blood

DOI

EISSN

1528-0020

Publication Date

December 21, 2017

Volume

130

Issue

25

Start / End Page

2718 / 2727

Location

United States

Related Subject Headings

  • Tissue Donors
  • Survival Analysis
  • Severe Combined Immunodeficiency
  • Risk Factors
  • Prospective Studies
  • Neonatal Screening
  • Male
  • Infections
  • Infant, Newborn
  • Infant
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Heimall, J., Logan, B. R., Cowan, M. J., Notarangelo, L. D., Griffith, L. M., Puck, J. M., … Dvorak, C. C. (2017). Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood, 130(25), 2718–2727. https://doi.org/10.1182/blood-2017-05-781849
Heimall, Jennifer, Brent R. Logan, Morton J. Cowan, Luigi D. Notarangelo, Linda M. Griffith, Jennifer M. Puck, Donald B. Kohn, et al. “Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.Blood 130, no. 25 (December 21, 2017): 2718–27. https://doi.org/10.1182/blood-2017-05-781849.
Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, et al. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood. 2017 Dec 21;130(25):2718–27.
Heimall, Jennifer, et al. “Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.Blood, vol. 130, no. 25, Dec. 2017, pp. 2718–27. Pubmed, doi:10.1182/blood-2017-05-781849.
Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Pulsipher MA, Parikh S, Martinez C, Kapoor N, O’Reilly R, Boyer M, Pai S-Y, Goldman F, Burroughs L, Chandra S, Kletzel M, Thakar M, Connelly J, Cuvelier G, Davila Saldana BJ, Shereck E, Knutsen A, Sullivan KE, DeSantes K, Gillio A, Haddad E, Petrovic A, Quigg T, Smith AR, Stenger E, Yin Z, Shearer WT, Fleisher T, Buckley RH, Dvorak CC. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood. 2017 Dec 21;130(25):2718–2727.

Published In

Blood

DOI

EISSN

1528-0020

Publication Date

December 21, 2017

Volume

130

Issue

25

Start / End Page

2718 / 2727

Location

United States

Related Subject Headings

  • Tissue Donors
  • Survival Analysis
  • Severe Combined Immunodeficiency
  • Risk Factors
  • Prospective Studies
  • Neonatal Screening
  • Male
  • Infections
  • Infant, Newborn
  • Infant