Severe combined immunodeficiency

Severe Combined ImmunodeficiencySubmitted to: Dr Amber Submitted by: Mahnoor Khawaja

Course : Immunology

Primary immunodeficiency

Primary immuno deficienciesare disorders in which part of the body'simmune systemis missing or does not functionnormally.

No environmental or toxin are involved.

Most primary immunodeficiency aregenetic 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.

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.

Common Types 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.

Role of interleukin

The subunit of IL2RG causing XSCID are;

Cell profile

Adenosine deaminase (ADA)

Adenosine deaminase is the enzyme that is affected during ADA deficiency. Deoxyadenosine is accumulated as the result of ADA.

Diagnosis

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.

Gene therapy References

http://www.bio.davidson.edu/courses/immunology/students/spring2006/kinsell/ADASCID.htmhttps://geneticmutationruebe7.wikispaces.com/Severe+Combined+Immunodeficiency+(SCID)