About SCID & Newborn Screening

Severe Combined Immune Deficiency (SCID) is considered to be the most serious group of primary immune deficiency disorders (PID), recognised as a paediatric emergency and potentially fatal .

Research indicates SCID may be caused by absent or poorly functioning T-lymphocytes, an absent or poorly functioning thymus gland, or defective bone marrow stem cells from which the mature T-or B-lymphocytes develop. There is a number of specific forms of SCID. For some types of SCID, specific genetic defects have been identified causing the abnormalities in the developing immune system, other suspected gene mutations are yet to be discovered.

The combined lack of T-lymphocyte and B-lymphocyte function in SCID leaves the infant completely vulnerable to life threatening infections. Infants with SCID typically fail to thrive and may experience an excessive number of infections and complications. They may experience one or more serious, even life-threatening, infections such as pneumonia, meningitis or bloodstream infections within the first few months of life. Normal childhood infections and viruses can be fatal to a baby with SCID.

Because a SCID baby is so vulnerable to infection, early diagnosis is critical. Infections can quickly lead to severe life threatening situations where the SCID baby is left fighting for its survival, weakened and exposed to permanent organ damage.

  If a baby with SCID receives a bone marrow transplant in the first 3.5 months of life, the survival rate can be as high as 94 percent. However, the survival rate drops to less than 70 percent for infants who are transplanted after that age. The main causes for the drop in survival rate are serious infections babies with SCID developed prior to transplantation.(IDF SCID initiative)

Early diagnosis of SCID is essential to preserve life. New screening tests for newborns offer growing hope that all babies affected by SCID can be diagnosed in the first week of life.Once diagnosed there are then effective treatment options available, such as Bone Marrow (Stem cell) transplant which can cure this rare PID .The first bone marrow transplant treating a SCID patient was pioneered in 1968 in the USA.Today, New Zealand infants diagnosed with SCID routinely undergo bone marrow transplant at Starship National Children’s Hospital.

Newborn Screening

Because early diagnosis and medical intervention (before infections occur) has been proven to lead to better outcomes – scientists and immunologists have collaborated to develop an effective newborn screening  test to identify SCID as part of the routine Guthrie screening tests performed on new born babies .

TREC screening has now been established or is undergoing trials in many states of the USA. This testing is also of benefit in diagnosing a range of other PID conditions in addition to SCID.

IDFNZ is passionate about establishing this testing into New Zealand. We are thrilled that the Newborn Metabolic Screening Unit is currently working with local immunology clinicians and scientists to evaluate the introduction of New Zealand SCID newborn testing.  This is a critical test which will save lives of precious New Zealand babies once introduced - we look forward to MOH introducing this into the National screening program .

Meet some of our SCID patient members and their families who support SCID newborn testing being introduced into New Zealand : 

 Add your voice  - help spread the word about SCID and the simple test that can save lives of vulnerable babies born with this silent , life threatening condition. 

Write to your member of parliament (mail us a copy)  and let them know you support SCID newborn testing being introduced urgently to save precious lives .


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