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Hematopoietic hierarchy aging blood cell hematopoietic stem cell blood disorder Derrick Rossi

Blood-forming hematopoietic stem cells (top) give rise to all blood and immune cell types. In children with SCID, the steps leading to immune cells are broken.

In the world of fatal congenital immunodeficiency diseases, good news is always welcome, because most patients die before their first birthday if not treated. Babies with severe combined immunodeficiency disease, aka SCID or the “bubble boy disease,” now have more hope for survival thanks to two pieces of good news.

Transplants are looking up

First came a July paper in the New England Journal of Medicine (NEJM) by the Primary Immune Deficiency Treatment Consortium. This North American collaborative analyzed a decade’s worth of outcomes of hematopoietic stem cell transplant (HSCT), currently the only standard treatment option for SCID that has a chance of providing a permanent cure. Full story »

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Agustín Cáceres, once a virtual "bubble boy," is no longer on infectious disease precautions.

For the Cáceres family of Argentina, it’s a joyous holiday homecoming. Agustín, who received gene therapy at 5½ months of age, journeyed with his family to Boston for a check-up and got a clean bill of health.

Agustín was born with the rare immune-deficiency disorder SCID-X1. More popularly known as “bubble boy” disease, it left him defenseless against infections, unable to make enough T-cells to fight them off. His baptism was the only time his family could come near him, all wearing masks, gloves and gowns. His infancy was spent in isolation with his mother.

Now, at age 2½, Agustín has been cleared to go to nursery school, ride a bus and attend large family gatherings without fear of contracting a life-threatening infection. When we caught up with him, he was chasing and tumbling with his older brother Jeremías while waiting to bid farewell to his care team. Full story »

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The first U.S.-treated patient with his parents. Photo: Patrick Bibbins

Until this month, Agustín Cáceres’s baptism was the only time his family could come close to him. Everyone had to wear masks, gloves and gowns.

After that, he went into isolation, along with his mother Marcela, who came out only for meals. His father Alberto, and his four-year-old brother Jeremías, kept to a separate bedroom. Jeremías had to stop attending nursery school, for fear he’d bring home an infection his baby brother might catch. When Agustín’s relatives came to help out, they had to change their clothes and wash their hands, and couldn’t enter Agustín’s room.

Agustín, born in Argentina, has a form of X-linked Severe Combined Immunodeficiency, or SCID-X1, better known as “bubble boy disease.” Full story »

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