Severe combined immunodeficiency (SCID), also known as "Bubble Boy Disease", is a primary immunodeficiency caused by mutations in several genes resulting in the lack of T-cells and sometimes B-cells and NK cells as well. It was widely known due to David Vetter who lived in a germ-free plastic bubble for 12 years. SCID is diagnosed through newborn screening, blood tests, and showing a lack of white blood cells in newborns. Treatments include supportive therapies like antibiotics and immunoglobulin injections as well as curative therapies such as stem cell transplant or gene therapy.

1. SEVERE COMBINED
IMMUNODEFICIENCY
(SCID)

2.  Is a primary Immunodeficiency
 Often called “Bubble Boy Disease”
 SCID became widely known during the
1970’s and 80’s, when the world learned of
David Vetter, a boy with X-linked SCID, who
lived for 12 years in a plastic, germ-free
bubble.

4. CAUSE/ ETIOLOGY
 Mutations in several different genes cause
SCID
 There is a complete block in the development
of T-cells, and thus complete lack of help for B-
cells
 Depending on the particular gene defect, B-
cells and/or NK cells may also be absent
 Caused by a deficiency of an enzyme which is

5. CHARACTERISTICS

6. CHARACTERISTICS
Morbilliform Rash Diaper
Rash
Oral Thrush

7. LABORATORY DIAGNOSIS
 Early diagnosis of SCID: WBC count in
newborn
 Newborn Screening
 Blood tests

8. TREATMENT
 Supportive Treatments
 Antibiotics
 Intravenous Immunoglobulin (IVIg)
 Weekly injection of enzyme (life time)
 Blood transfusion
 Admission in an isolated room
 Curative Treatments
 Stem cell transplant
 Bone marrow transplant
**Gene therapy