The IAA One Minute Blog

A new gene therapy is helping children with a rare form of “Bubble boy” disease live normal lives. Experts said the findings are a major advance for children with the disease –a subtype of severe combined immunodeficiency (SCID).

New Therapy Offers Hope

SCID refers to a group of rare genetic diseases that cause babies to be born without a functioning immune system.

There are different types of SCID, based on which gene mutations are involved, but all render the body unable to produce normal B-cells and T-cells—critical infection fighting components of the immune system. This means ordinary childhood illnesses can be fatal without treatment.

Artemis-deficient SCID is a rare subtype of a rare disease: SCID affects around 1 in 65,000 newborns in the United States. The Artemis form accounts for only two to three percent of all SCID cases.

The new approach to treating ART-SCID involves removing bone marrow stem cells from babies newly diagnosed with ART-SCID, inserting a functional copy of the Artemis gene into the cells, then infusing them back into the body.

The children in the ART-SCID trial have been followed for varying lengths of time. All are able to produce T-cells and B-cells. Of six children who have been followed for at least two years, five have full T-cell immunity. Four have had enough B-cell restoration to stop recurring antibody infusions to protect them from infections.

The findings were published in the “New England Journal of Medicine.”

Signs of SCID

Infants with SCID appear healthy at birth but are highly susceptible to severe infections.

Symptoms of SCID usually become apparent within the first year of life and generally include repeated infections that do not respond to medications in a typical manner:

• Deep infections that affect the entire lung or liver
• Failure to grow or gain weight appropriately
• Infections that do not resolve with two months of antibiotic treatment
• Infections that require intravenous antibiotic treatment
• Persistent ear infections (eight or more)
• Persistent thrush in the mouth or throat
• Repeated case of pneumonia or bronchitis

More than a dozen genes have been implicated in SCID, but gene defects are unknown in approximately 15 percent of newborn-screened SCID infants, according to a National Institutes of Health funded study.

What IAA has to Say

New discoveries are being made every day and Insurance Administrator of America thinks you should stay up to date! Remember, with IAA one call does it all.