Severe combined immunodeficiency
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Transcript of Severe combined immunodeficiency
SEVERE COMBINED IMMUNODEFICIENCY
Submitted to: Dr Amber Submitted by: Mahnoor Khawaja
Course : Immunology
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.
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.
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
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.
XSCID
This type of SCID is inheritable, caused by a mutation occurring in the xq13.1 locus of the X-chromosome.
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.
Adenosine deaminase (ADA)
Adenosine deaminase is the enzyme that is affected during ADA deficiency.
Deoxyadenosine is accumulated as the result of ADA.
Diagnosis
Complete Blood Counts
T cell, B cell, and NK cell
counts
Specific genetic testing
Immunoglobulin levels (IgG,
IgM, IgA, IgE)
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.
References
http://www.bio.davidson.edu/courses/immunology/students/spring2006/kinsell/ADASCID.htm
https://geneticmutationruebe7.wikispaces.com/Severe+Combined+Immunodeficiency+(SCID)