The first child with a severe combined immunodeficiency, known as ‘bubble children’, detected with blood spot screening, also known as the heel prick test, has been able to be cured with an early transplant of hematopoietic stem cells from a donor’s umbilical cord. The transplant allowed his immune system to work correctly.

Baby Derek was born in February 2018 and at 11 days he was diagnosed with this severe immunodeficiency. The transplant was performed at the Vall d’Hebron Hospital, in Barcelona, ​​three months after the baby was born without suffering any infection, which induced a rapid recovery of this potentially fatal disease.

In cases like this, early detection significantly increases the chances of recovery, which rapidly fall as the months pass. The fact that newborns inherit antibodies from the mother after delivery, added to the immunoprotective effect of breast milk, makes it difficult to early detect these immune system-related diseases, which usually show up in the presence of an infection as the months go by, when the protective effect inherited from the mother disappear.

Normal life

The doctors explained that the transplant was successful. The child is cured and will be able to live a normal life. In his last check-up, the doctors have already given his mothers permission to remove the mask from his face, which has protected him from possible infections.

In addition, Derek has a twin sister who is in good health and an older brother, who must go to the grandparents’ house as soon as they get sick, to avoid contagion and until the baby is finally discharged.

Umbilical cord blood transplant

The doctors considered that the best therapeutic alternative in the case of Derek was an umbilical cord blood transplant, which contains a high number of stem cells that can be converted into cells of the immune system in the recipient. “Thanks to the transplant, Derek’s body began to develop the immune system step by step,” said Dr. Pere Soler, head of the Infectious Pathology and Immunodeficiencies unit of Pediatrics.

After the transplant, the child continued isolated to ensure that the evolution of his immune system was correct and that he grafted well, said Dr. Cristina Díaz de Heredia, head of the Pediatric Transplant Unit of hematopoetic progenitor

One month after receiving the transplant, the child developed sufficiently his immune system to go home, and the following months the doctors monitored him with periodic visits his immune system, which, now, is normal and can be said to be cured of his illness, said Pere Soler.

Early diagnosis is key

The time factor has been “key” in the healing of the child, the doctors said, and the transplant could be done very soon thanks to the fact this disease was included in the heel prick test since January 2017 in Catalonia.

Since January 2017, the heel test has been performed on 135,000 newborns, of whom only one, Derek, has suffered from this serious disease, and another thirteen have been diagnosed with other immune pathologies, Soler said.


Source: Agencia ID