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SEVERE COMBINED IMMUNODEFICIENCY Submitted to: Dr Amber Submitted by: Mahnoor Khawaja Course : Immunology

Severe combined immunodeficiency

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  1. 1. SEVERE COMBINED IMMUNODEFICIENCY Submitted to: Dr Amber Submitted by: Mahnoor Khawaja Course : Immunology
  2. 2. Primary immunodeficiency Primary immuno deficiencies are disorders in which part of the body's immune system is missing or does not function normally. No environmental or toxin are involved. Most primary immunodeficiency are genetic disorders.
  3. 3. Introduction Severe combined immunodeficiency (SCID) is a group of fatal disorder that results in little or no immune response. The disease is also called bubble boy disease.
  4. 4. Immune system T and B cells become non function in SCID, which causes onset of serious infections with early days of birth. Pneumonia Live viruses Blood stream infection Diarrhea Oral thrush
  5. 5. Innate system Some elements of the innate immune system including natural killer (NK) cells, macrophages, granulocytes and complement proteins are active. NK cells are present in approximately 50 percent of patients with SCID and may provide a degree of protection against bacterial and viral infections in these patients.
  6. 6. Common Types SCID XSCID (X linked ) Adenosine deaminase (ADA)
  7. 7. XSCID This type of SCID is inheritable, caused by a mutation occurring in the xq13.1 locus of the X- chromosome.
  8. 8. Mutation Mutation of IL2RG protein ,causes defeat or absence of gamma chain. At the end T cells are unable to deliver the signal to B or NK cells, which prevent their maturation.
  9. 9. Role of interleukin The subunit of IL2RG causing XSCID are; Interleukin 4,15 (B cell) Interleukin 7,
  10. 10. Cell profile
  11. 11. Adenosine deaminase (ADA) Adenosine deaminase is the enzyme that is affected during ADA deficiency. Deoxyadenosine is accumulated as the result of ADA.
  12. 12. Diagnosis Complete Blood Counts T cell, B cell, and NK cell counts Specific genetic testing Immunoglobulin levels (IgG, IgM, IgA, IgE)
  13. 13. Treatment Bone marrow transplant, which provides a new immune system to the patient. Gene therapy treatment of SCID has also been successful in clinical trials, but not without complications. Enzyme replacement therapy.
  14. 14. Gene therapy
  15. 15. References http://www.bio.davidson.edu/courses/immunol ogy/students/spring2006/kinsell/ADASCID.htm https://geneticmutationruebe7.wikispaces.com/ Severe+Combined+Immunodeficiency+(SCID)