Immune Reconstitution and Survival of 100 SCID Patients Post Hematopoietic Cell Transplant: A PIDTC Natural History Study.
Abstract
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 2010-2014, including 68 with typical SCID and 32 with leaky SCID, Omenn Syndrome
or Reticular Dysgenesis. Most (59%) were diagnosed by newborn screening or family
history. The 2-year overall survival (OS) was 90%but was 95% for those infection-free
at HCT vs. 81% for those with active infection (p=0.009). Other factors, including
the diagnosis of typical vs. leaky SCID/Omenn Syndrome, diagnosis via family history
or newborn screening (FH/NBS), use of preparative chemotherapy, or the type of donor
utilized did not impact survival. While 1-year post-HCT median CD4 counts and freedom
from IVIG were improved after use of preparative chemotherapy, other immunologic reconstitution
parameters were not affected and the potential for late sequelae in extremely young
infants requires further evaluation. Following a T-cell-replete graft, landmark analysis
at Day +100 post-HCT revealed that CD3 <300 cells/uL, CD8 <50 cells/uL, CD45RA <10%,
or a restricted Vβ T cell receptor repertoire (<13 of 24 families) was associated
with need for second HCT or death. In the modern era, active infection continues to
pose the greatest threat to survival for SCID patients. Although NBS 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 is registered at www.clinicaltrials.gov as NCT01186913.
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https://hdl.handle.net/10161/15691Published Version (Please cite this version)
10.1182/blood-2017-05-781849Publication Info
Heimall, Jennifer; Logan, Brent R; Cowan, Morton J; Notarangelo, Luigi D; Griffith,
Linda M; Puck, Jennifer M; ... Dvorak, Christopher C (2017). Immune Reconstitution and Survival of 100 SCID Patients Post Hematopoietic Cell Transplant:
A PIDTC Natural History Study. Blood. 10.1182/blood-2017-05-781849. Retrieved from https://hdl.handle.net/10161/15691.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Rebecca Hatcher Buckley
James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School
of Medicine
The overall emphasis of Dr. Buckley's research is in human T,B and NK cell development
and in aberrations in their development and regulation. The work involves three particular
areas of investigation: 1) the cellular and molecular bases of genetically-determined
human immunodeficiency diseases, 2) the use of bone marrow stem cells to cure genetically-determined
immunodeficiency diseases, and 3) the use of human SCID bone marrow stem cell chimeras
to study human thymic education, T and B cell on
Suhag H. Parikh
Associate Professor of Pediatrics
Stem cell transplantation for a variety of disorders - ranging from malignant diseases
such as leukemia, lymphoma and myelodysplastic syndrome to nonmalignant diseases such
as sickle cell disease, thalassemias, aplastic anemia, histiocytosis and leukodystrophies.
My clinical research interest is stem cell transplantation for children with primary
immune deficiency disorders and hemoglobinopathies such as sickle cell anemia,thalassemia
and other non-malignant disorders. In addition,I am intereste
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