GENETIC

DISORDERS
BY- ISHIKA , KAIRAVI AND KESHAV
SCID

 Severe combined immunodeficiency (SCID), also known as Swiss-type

agammaglobulinemic(Other name), is a rare genetic disorder characterized by
the disturbed development of functional T cells and B cells caused by numerous
genetic mutations. They help to remove cancerous cells by activating lymphocytes
on them.
 It affects our immune response as it interferes with the activation of Lymphocytes
or directly makes the T cells non-functional
What part does it affect?

 Both arms of the chromosome of T and B cells get affected.

 Some mutations have been observed that no chromosomal damage has been seen
but few affect it colossally.
 It affects the IL2RG gene affecting immune response. This gene provides
instruction to make gamma protein. This helps our body to make lymphocytes.
 It usually affects the X chromosome but can cause entire structural damage to
chromosome like ADA Gene. It helps in production of lymphocytes.
GENOMES AFFECTED

 It usually affects the IL2RG (interleukin 2 receptor gamma ) which helps in

production of lymphocytes as mentioned earlier.
 This helps in destroying the entire process of gamma protein affecting our
immune system.
 It affects the making of JAK 3 protein, which helps in proper functioning of
immune system by enabling the JAK/STAT pathway which send chemical signals
to nucleus helping the body to fight pathogens.
AGE GROUP

 Symptoms of SCID usually start within the first year of a child’s

life.
 If a child with SCID is diagnosed and treated within the first few
months of life before any serious infections develop, their long-term
survival rate is more than 90%.
 But without treatment, these children typically do not survive past
two years of age.
 Therefore, SCID never occurs in adults..
SYMPTOMS OF SCID
DIAGNOSIS OF SCID

 First, a clinical evaluation is done to assess the person’s family history of the
disease.
 Then , a complete blood count is done to assess the number of T cells present.
 Then, measures of Immunoglobin levels are measured to assess functioning of b
cells.
 Thus, more such complex tests are done and genetic theraphy is done or
hematopoietic stem cell transplantation is done by reseting immune system.
HOW TO CURE IT

 With treatment, SCID is curable. Following are the main methods/treatments

taken to cure a person suffering from SCID.
 Bone marrow transplant, which introduces healthy stem cells from a donor into
the body to rebuild the immune system.
 Gene therapy, which inserts a normal copy of the defective gene into the cells to
restore their function.
 Treatment with antibiotics and immune globulin (antibodies obtained from the
blood of people with a normal immune system) helps prevent infections by
making the body more immune
ADVANCEMENTS

 Many tests have been done helping the possibility of therapy and transplantation .
 It helps in advancements in genetic testing helping to check if it inherited.
 Newborn screening programs too help to check if this disease is present
QUIZ

 What is SCID? a. Skin disorder b. Immunodeficiency disorder c. Cardiovascular

disease d. Autoimmune disorder
 Which component of the immune system is affected in SCID? a. T cells b. B
cells c. Natural killer cells d. All of the above
 How is SCID usually diagnosed? a. Blood pressure measurement b. Genetic
testing c. Vision test d. Lung function test
 What is the primary treatment for SCID? a. Antibiotics b. Chemotherapy c.
Immunoglobulin therapy d. Stem cell or bone marrow transplant
 What is the genetic basis of SCID? a. Autosomal recessive b. Autosomal
dominant c. X-linked recessive d. Y-linked
Scid images
LINKS

http://www.britannica.com/
https://en.wikipedia.org/wiki/Cystic_fibrosis
https://en.wikipedia.org/
https://en.wikipedia.org/wiki/Severe_combined_immunodeficiency