Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Newborn Testing for Immune Disorders Could Save Lives

22.04.2004


A simple, inexpensive blood test performed at birth to screen for immune disorders could dramatically increase the chance of survival for babies born with such potentially fatal disorders as severe combined immunodeficiency disease (SCID).


Rebecca H. Buckley, M.D.
Credit: Duke University Medical Center



Physicians at Duke University Medical Center have performed stem cell transplants in 136 infants with SCID in the past 22 years. The survival rate for 38 infants receiving transplants in the first 3.5 months of life is 97 percent, but the rate drops to 69 percent for infants who were transplanted after that age, Rebecca Buckley, M.D., reports in the April 23, 2004, Annual Review of Immunology.

The main cause for the drop in survival rate is serious infections SCID babies develop in the first few months of life. Infants with SCID have little or no immune system. Without treatment, they die of infection before their first or second birthdays. But for infants without a known family history of SCID, the average age of referral for immune testing is approximately 6 months, Buckley said. "The tragedy is that most patients are critically ill by then,’’ she said.


Buckley believes that all newborns should be screened for immune deficiency disorders at birth. "SCID is a pediatric emergency. There is no screening for any primary immunodeficiency disease at birth or during childhood and adulthood in any country. Thus, most patients are not diagnosed until they develop a serious infection, which certainly adversely affects the outcome of therapy," said Buckley, a professor in Duke’s division of pediatric allergy and immunology.

Early treatment also reduces costs -- a transplant in the first three months of life can cost less than $50,000, but the cost of care skyrockets up to millions of dollars for seriously ill patients, with less guarantee of success. And SCID patients who received stem cell transplants from related donors within the first 28 days of life developed a more robust immune system, with higher levels of T cell reconstitution and output from the thymus gland. T cells are white blood cells that are essential for normal function of the immune system, Buckley reports.

Nearly all SCID cases can be diagnosed at birth by counting the number of lymphocytes, a type of white blood cell, present in umbilical cord blood, Buckley said. Infants with SCID have a profound deficiency of lymphocytes, due to the deficiency of T cells that help fight infections. Children with other immune disorders could also be identified through this test, which costs an average of $50 at a commercial laboratory. Researchers at the National Humane Genome Research Institute are developing a test for immunodeficiency disorders that could be performed on the small blood sample now taken from newborns to screen for certain metabolic disorders.

Nine forms of SCID have been identified in the past 10 years, caused by mutations of single genes. However, Buckley has treated 30 patients without mutations in the known SCID genes, making it likely other causes are yet to be discovered. The most common form of SCID is X-linked recessive, a mutation inherited on the X chromosome. Because X-linked recessive genes are expressed in girls only if a child receives two copies of the gene -- one from each parent -- the disease is more common in boys, who only need one copy for an X-linked recessive gene to be expressed. SCID-X1 accounts for 46 percent of U.S. cases.

The incidence of SCID has been projected to range from one in every 100,000 to 500,000 births -- more frequent than disorders such as Huntington’s disease. "However, no one truly knows how common this disease is. I suspect that it is much more common than thought because a lot of SCID patients probably die before their disease is recognized," Buckley said.

Buckley and her colleagues at Duke University Medical Center treat SCID patients via stem cell transplants derived from donor bone marrow, typically from a parent or matched sibling. Transplant recipients do not need pretransplant chemotherapy or prophylactic treatment for graft-versus-host disease. Infants with SCID have a complete absence of T cell function, so they cannot reject the transplants. The bone marrow is processed to remove T cells, preventing the donor T cells from attacking the recipient, known as graft-versus-host disease. Mature, donor-derived, T cells typically appear in SCID patients within 90 to 120 days after transplant. The success of treatment varies among different forms of SCID.

Clinicians are striving to improve the success of transplant therapy and create more robust immune systems by giving higher numbers of stem cells in preparations nearly devoid of T cells, Buckley added. "If the imperfect results seen with stem cell therapy in the past were due to an insufficient number of stem cells, this approach should result in better immune reconstitution. The only remaining obstacle would then be to ensure diagnosis is made early before untreatable infections develop," she said.

Of the 136 SCID patients treated at Duke, 105 (77 percent) are alive. None show any evidence of susceptibility to opportunistic infections and most are in good general health. The oldest is 22 years of age. All 15 recipients of marrow from perfectly matched donors and 89 of the 121 recipients of T cell-depleted marrow from related donors are among the survivors.

Of the 38 infants transplanted during the first 3.5 months of life, 37 (97 percent) survive, compared to 68 survivors among the 98 transplanted after that age (69 percent success). Twenty-four of the 31 deaths occurred from viral infections. Graft-versus-host-disease (GVHD) occurred in 40 of the 121 patients given T cell-depleted parental bone marrow, but most of the GVHD was mild and required no treatment; there were no deaths from GVHD. In 35 of 40 GVHD cases, the complication occurred when there was persistence of transplacentally transferred maternal T cells.

Becky Oskin | dukemed news
Further information:
http://dukemednews.org/news/article.php?id=7547

More articles from Health and Medicine:

nachricht Investigators may unlock mystery of how staph cells dodge the body's immune system
22.09.2017 | Cedars-Sinai Medical Center

nachricht Monitoring the heart's mitochondria to predict cardiac arrest?
21.09.2017 | Boston Children's Hospital

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: The pyrenoid is a carbon-fixing liquid droplet

Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.

A warming planet

Im Focus: Highly precise wiring in the Cerebral Cortex

Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.

The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Penn first in world to treat patient with new radiation technology

22.09.2017 | Medical Engineering

Calculating quietness

22.09.2017 | Physics and Astronomy

Hope to discover sure signs of life on Mars? New research says look for the element vanadium

22.09.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>