Corporate Banner
Satellite Banner
Stem Cells, Cellular Therapy & Biobanking
Scientific Community
Become a Member | Sign in
Home>News>This Article

Early Treatment Benefits Infants with Severe Combined Immunodeficiency

Published: Friday, August 01, 2014
Last Updated: Friday, August 01, 2014
Bookmark and Share
NIH-funded study identifies factors contributing to successful stem cell transplants.

Early transplantation of blood-forming stem cells is a highly effective treatment for infants with severe combined immunodeficiency (SCID), a group of rare, life-threatening inherited immune system disorders, a study funded by the National Institutes of Health suggests.

Approximately three-quarters of SCID infants who received transplants survived for at least five years. Infants who received transplants within the first 3.5 months of life had the best outcomes. Researchers from the Primary Immune Deficiency Treatment Consortium External Web Site Policy (PIDTC), funded by NIH’s National Institute of Allergy and Infectious Diseases (NIAID), report their findings in the July 31 issue of the New England Journal of Medicine.

SCID is caused by defects in genes involved in the development and function of infection-fighting T and B cells. Infants with SCID appear healthy at birth but are highly susceptible to infections. If untreated, SCID is fatal, usually within the first year of life. Development of a newborn screening test has made it possible to detect SCID before symptoms appear. The test was added to the U.S. Department of Health and Human Services’ Recommended Uniform Screening Panel External Web Site Policy for newborns in 2010, but to date, only 21 states External Web Site Policy have implemented newborn screening for SCID.

“The findings from this study highlight the positive impact of treating SCID early in life,” said NIAID Director Anthony S. Fauci, M.D. “They also suggest that widespread use of newborn screening tests for SCID is warranted to ensure that infants with this rare syndrome receive life-saving transplants.”

Stem cell transplantation can fully correct the T-cell and, less consistently, the B-cell deficiencies of SCID infants. To identify factors that contribute to successful transplant outcomes, PIDTC investigators analyzed data from 240 SCID infants who received transplants at 25 clinical centers across the United States and Canada between 2000 and 2009.

The researchers found that younger infants and those without infections had excellent survival rates. Almost all 68 babies transplanted within the first 3.5 months of life survived, with 64 still alive five years after transplant. Many of these babies had a family history of SCID and were diagnosed before the onset of infections. Survival rates for older infants who never had infection or whose infections cleared before transplant also were high - 90 percent and 82 percent, respectively. Only 50 percent of babies who had infections at the time of transplant survived for five years.

“These findings indicate that early transplantation and absence of infection are critical to achieving the best transplant outcomes for infants with this serious disorder,” said Daniel Rotrosen, M.D., director of NIAID’s Division of Allergy, Immunology and Transplantation. “The results of this study pave the way for further work to identify optimal stem cell transplant procedures for infants with SCID.”

Donor type also affected transplant success, with the best outcomes resulting from sibling donors whose human leukocyte antigens (HLA) - proteins that help regulate immune responses - matched those of the recipient. HLA matching reduces the risk of graft-versus-host disease, in which transplanted cells attack the recipient’s cells. Because HLA markers are inherited from both parents, siblings have a one-in-four chance of being a perfect match. In the PIDTC study, 97 percent of infants who received transplants from HLA-matched siblings survived at least five years.

Regardless of donor type, survival rates were high for infants transplanted within the first 3.5 months of life and those of any age without infection at time of transplant. SCID infants with active infection and lacking a matched sibling donor did not fare as well. These infants were most likely to survive if they received specially treated bone marrow from a parent, but did not receive any pre-transplant chemotherapy, which often is administered to help the transplanted cells survive. This finding indicates that treatment and prevention of infection and avoidance of chemotherapy if an infection cannot be cleared are important considerations before transplantation.

Transplants from matched siblings led to the best restoration of immune function. Among survivors of transplants from non-sibling donors, use of certain pre-transplant chemotherapy regimens was associated with higher T-cell numbers and more consistent B-cell function. However, chemotherapy carries the risk of severe early side effects, which can reduce chances of survival. Survivors may experience long-term chemotherapy side effects, such as poor growth. Future research will focus on developing transplant procedures that improve survival and immune recovery while avoiding harmful side effects.

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,600+ scientific posters on ePosters
  • More than 3,800+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

A Patient’s Budding Cortex — In A Dish?
Networking neurons thrive in 3-D human “organoid”
Friday, May 29, 2015
Drugs that Activate Brain Stem Cells May Reverse Multiple Sclerosis
NIH-funded study identifies over-the-counter compounds that may replace damaged cells.
Tuesday, April 21, 2015
Stem Cell Transplants May Halt Progression of Multiple Sclerosis
NIH-funded study yields encouraging early results.
Tuesday, December 30, 2014
Scientists Sniff Out Unexpected Role for Stem Cells in the Brain
NIH scientists find that restocking new cells in the brain’s center for smell maintains crucial circuitry.
Saturday, October 11, 2014
Suspect Gene Corrupts Neural Connections
“Diseases of synapses” demo’d in a dish - NIH-funded study.
Tuesday, August 19, 2014
Stem Cells Form Light-Sensitive 3-D Retinal Tissue
Researchers induced human stem cells to create a 3-D retina structure that responds to light. The finding may aid the study of eye diseases and could eventually lead to new therapies.
Tuesday, June 24, 2014
Stem Cell Therapy Rebuilds Heart Muscle in Primates
Human embryonic stem cells used to regenerate damaged primate hearts.
Tuesday, May 13, 2014
Too Much Protein May Kill Brain Cells As Parkinson’s Progresses
NIH-funded study on key Parkinson’s gene finds a possible new target for monitoring the disease.
Friday, April 11, 2014
NeuroBioBank Gives Researchers One-Stop Access to Post-Mortem Brains
The NIH is shifting from a limited funding role to coordinating a Web-based resource for sharing post-mortem brain tissue, a move which is expected to expedite research on brain disorders.
Tuesday, December 03, 2013
Gene-Silencing Study Finds New Targets for Parkinson’s Disease
NIH study sheds light on treatment of related disorders.
Monday, November 25, 2013
Epigenetic Clock Marks Age of Human Tissues and Cells
The age of many human tissues and cells is reflected in chemical changes to DNA. The finding provides insights for cancer, aging, and stem cell research.
Tuesday, November 05, 2013
NIH Scientists Pursue New Therapies to Improve Rare Disease Drug Development
Projects selected for potential to treat specific rare diseases.
Friday, September 13, 2013
Stem Cells Discovered in Deadly Parasitic Flatworms
The study was described in Nature on February 28, 2013.
Friday, March 15, 2013
New Type of Pluripotent Cell Discovered In Adult Breast Tissue
Human body carries personalized “patch kit," Say UCSF scientists.
Tuesday, March 05, 2013
NIH Study Suggests Gene Variation May Shape Bladder Cancer Treatment
Study appeared in the Journal of the National Cancer Institute.
Thursday, January 03, 2013
Scientific News
Snapshot Turns T Cell Immunology on its Head
New research may have implications for 1 diabetes sufferers.
Developing a Gel that Mimics Human Breast for Cancer Research
Scientists at the Universities of Manchester and Nottingham have been funded to develop a gel that will match many of the biological structures of human breast tissue, to advance cancer research and reduce animal testing.
Lung Repair and Regeneration Gene Discovered
New role for hedgehog gene offers better understanding of lung disease.
Restoring Vision with Stem Cells
Age-related macular degeneration (AMRD) could be treated by transplanting photoreceptors produced by the directed differentiation of stem cells, thanks to findings published today by Professor Gilbert Bernier of the University of Montreal and its affiliated Maisonneuve-Rosemont Hospital.
The Age of Humans Controlling Microbes
Engineered bacteria could soon be used to detect environmental toxins, treat diseases, and sustainably produce chemicals and fuels.
Gene Expression: A Snapshot of Stem Cell Development
New genes found that regulate development of stem cells.
Tissue-Engineered Colon from Human Cells
A study by scientists at Children’s Hospital Los Angeles has shown that tissue-engineered colon derived from human cells is able to develop the many specialized nerves required for function, mimicking the neuronal population found in native colon.
Tension Helps Heart Cells Develop Normally in the Lab
Stanford engineers have uncovered the important role tension plays in growing heart cells out of the body.
Urine Excretion From Stem Cell-Derived Kidneys
Researchers report a strategy for enabling urine excretion from kidneys grown from stem cells.
Stem Cell Research Hints at Evolution of Human Brain
Researchers at UC San Francisco have succeeded in mapping the genetic signature of a unique group of stem cells in the human brain that seem to generate most of the neurons in our massive cerebral cortex.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,600+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos