SEVERE COMBINED IMMUNODEFICIENCY (SCID)

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.

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

necessary for lymphocytes to develop

CHARACTERISTICS

CHARACTERISTICS

Morbilliform Rash

Diaper Rash

Oral Thrush

LABORATORY DIAGNOSIS

Early diagnosis of SCID: WBC count in

newborn

Newborn Screening

Blood tests

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