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Immunodeficiency
(bubble boy disease)
Contents
Introduction
Types of SCID Symptoms
Diagnosis of SCID
Treatment for SCID
Transplant for SCID
Introduction
Children with SCID are at risk for life-threatening infections. From their first
months of life, they have infections that may be frequent, severe, long-
lasting or hard to treat. Infections may occur in the lungs (pneumonia),
around the brain and spinal cord (meningitis) or in the blood stream.
Several US states are performing pilot studies to diagnose SCID in new-borns
through the use of T-cell recombinant excision circles.
The delay in detection is because new-borns carry their mother's antibodies
for the first few weeks of life and SCID babies look normal.
Treatment for SCID
Preventing infections
Enzyme therapy for ADA deficiency SCID
The standard treatment for ADA deficiency SCID is treatment with a form of
the ADA enzyme called PEG-ADA. Treatment with PEGADA is effective in
about 90% of children. However, despite PEGADA therapy, some children
continue to require IVIG treatments
Gene therapy
A treatment option being studied in clinical trials is gene therapy. Gene
therapy has shown promising results for some patients with ADA deficiency
SCID. At first, gene therapy also appeared to be a promising treatment for X-
linked SCID, but some children treated with gene therapy developed
leukemia. New trials of gene therapy are in progress. But despite some
promising results, gene therapy remains an experimental treatment for SCID.
Transplant for SCID
The most common treatment for SCID is bone marrow transplantation, which has
been successful using either a matched related or unrelated donor, or a half-
matched donor, who would be either parent.
The half-matched type of transplant is called haploidentical and was perfected by
Memorial Sloan Kettering Cancer Center in New York and also Duke University
Medical Center which currently does the highest number of these transplants of
any center in the world.
Haploidentical bone marrow transplants require the donor marrow to be depleted
of all mature T cells to avoid the occurrence of graftversus-host disease (GVHD).
Consequently, a functional immune system takes longer to develop in a patient
who receives a haploidentical bone marrow transplant compared to a patient
receiving a matched transplant.
David Vetter, the original "bubble boy", had one of the first transplantations but
eventually died because of an unscreened virus, Epstein-Barr (tests were not
available at the time), in his newly transplanted bone marrow from his sister.
Conclusion
THANK YOU
SUBHADEEP ADITYA
BSC BIOTECHNOLOGY
UG/BSBIOT/08/2017/037