2. What is SCID?
• Severe Combined Immunodeficiency, or SCID, is
characterized by the highly diminished number
and functionality of T-Lymphocytes. This also
impairs the ability of B-cells to function (because
of reduced helper T-cells), ultimately preventing
the body to fight off disease and infection
effectively.
• Often coined as the “bubble boy” disease
3. Diagnosis
• The defect SCID causes in T- and B-lymphocytes
results usually in one or more serious infections
within a few months of birth (pneumonia,
meningitis) which are often life threatening.
• SCID can be diagnosed through complete blood
counts, testing T-cell B-cell and NK cell counts,
immunoglobulin levels, specific genetic testing, and
newborn testing for SCID (in such states as New
York, Wisconsin, etc.). Though the most common is
diagnosis usually after a child is over six months old,
due to an unusually high number of infections.
4. Causes
• Defects of at least 14 known genes can cause
SCID in both girls and boys of any ethnicity
• The most common cause of SCID affects males
as an inherited x-linked disease (mother passes
the abnormal gene on without having to show
symptoms)
5. Treatments• Medications
(antiviral, antifungal, antibiotic; to
prevent disease)
• Immunoglobulin supplementation
• Hematopoietic cell transplantation
(HCT), gives the patient working
cells to form a base for a new
healthy immune system; best
treatment for most patients
• Enzyme replacement therapy –
For patients with SCID caused by
deficiency of Adenosine
Deaminase (ADA), encourages
repair of immune system
• Gene Therapy, to correct the
genetic mutation (comes with
serious risk of complication)
• Bone Marrow transplant (healthy
bone marrow stem cells to create
healthy immune cells)
6. Prognosis
• Avoid disease, sickness, infections; even the
common cold can have adverse affects on a SCID
patient’s weakened immune system
• SDIC patients often have to receive long-term
treatment, either to facilitate the creation of
healthy immune cells or to fight off infections
7. Bibliography
• "The SCID Homepage." The SCID Homepage.
N.p., n.d. Web. 15 Mar. 2014.
• "Severe Combined Immunodeficiency (SCID) -
PIDTC." Severe Combined Immunodeficiency
(SCID) - PIDTC. N.p., n.d. Web. 15 Mar. 2014.
<https://rarediseasesnetwork.epi.usf.edu/PIDTC/S
CID/>.
• "Learning About Severe Combined
Immunodeficiency (SCID)." Learning About Severe
Combined Immunodeficiency (SCID). N.p., n.d.
Web. 15 Mar. 2014.
<http://www.genome.gov/13014325>.
