Top
10
Doctor insights on: Is There A Way To Test Genetically For Severe Combined Immunodeficiency

Share
1

1
Explan why one human immunodeficiency virus test cannot definitely diagnose hiv?

Explan why one human immunodeficiency virus test cannot definitely diagnose hiv?

Good question: The HIV test to which you refer is an elisa assay which is quite sensitive but not as specific as the confirmatory western blot. These measure the presence of antibodies to the HIV and these may take from 2 wks to several months to develop. If you run the test before the antibodies have appeared, it will be negative, only to change to positive once antibody formation has occurred. ...Read more

Dr. Dawn Sokol
132 doctors shared insights

Weak Immune System (Definition)

Weak immune system refers to a state where the body's ability to fight off infection is diminished. A person's immune system can be weakened by chronic disease, malnutrition, or congenital defects of ...Read more


2

2
Is there a way to test genetically for severe combined immunodeficiency?

Is there a way to test genetically for severe combined immunodeficiency?

Definetely: Severe combined immunodeficiency (scid) are a group of genetic diseases that have in common their manifestation as a severe immune compromise, resulting in lack of defenses against infections. Genetic testing is available is specialized laboratories. A promising development is newborn screening for scid in some states: wi, ma, ny, ca. ...Read more

See 1 more doctor answer
3

3
What are the tests for severe combined immunodeficiency?

Depends: Scid screening should be done very early in life -- within the first few days. This test is clinically available and looks for, or the lack of, trec's -- which are parts of dna that should be present if immune system is developing properly. If scid screen is abnl and suggests scid the immunophenotyping will be done to confirm screen and further identify genetic defect. ...Read more

4

4
Is there a way to prevent severe combined immunodeficiency?

Is there a way to prevent severe combined immunodeficiency?

No: Scid is a genetic disease that children are born with. Currently there is no way to prevent scid. However, newborn screening for scid can identify scid patients very early in life and allow them the opportunity to be further eval/treated and save their lives. ...Read more

See 1 more doctor answer
5

5
In what way is severe combined immunodeficiency transmitted?

In what way is severe combined immunodeficiency transmitted?

Inherited: Severe combined immunodeficiency (scid) is a genetic condition. The defective gene is transmitted from parents to their children, though many times is an 'accident of nature' that starts with the affected child. Genetic counseling is helpful. ...Read more

See 1 more doctor answer
6

6
What is the life expectency of someone who has severe combined immunodeficiency?

What is the life expectency of someone who has severe combined immunodeficiency?

Good with treatment: Without treatment, severe combined immunodeficiency is lethal in infancy. If treated with a bone marrow transplantation or similar immune reconstitution, before severe infections occur, life expectancy is the same as normal individuals. Adults with scid treated in childhood have their own children. Poor organ function as a result of infections leaving scars might limit life expectancy. ...Read more

See 1 more doctor answer
7

7
What is severe combined immunodeficiency scid?

What is severe combined immunodeficiency scid?

SCID: Scid is severe combined immunodeficiency syndrome. It is a serious immune defect (primary immunodeficiency = pid) that requires life-saving treatment. The immune deficiency foundation has a great parents handbook about all pid's including scid. http://primaryimmune.org. ...Read more

See 1 more doctor answer
8

8
What is scid severe combined immunodeficiency?

What is scid severe combined immunodeficiency?

Immunodeficiency: Scid is one of the life threatening immunodeficiencies that a child can be born with. Because of missing part of the immune system these children lack any ability to fight infection. It is imperative that they are identified within the first weeks of life so that treatment can be obtained. ...Read more

9

9
Which enzyme is too low in severe combined immunodeficiency?

Which enzyme is too low in severe combined immunodeficiency?

Not always an enzyme: Severe combined immunodeficiency (scid) is diagnosed when t cells (a type of white blood cell) are absent or not working. There are at least 15 causes of scid. The very first one identified, though currently not the most common form is caused by deficiency of the enzyme Adenosine deaminase, which remove toxic products that kill t cells. ...Read more

See 1 more doctor answer
10

10
Why is severe combined immunodeficiency pt called "bubble boy"?

Why is severe combined immunodeficiency pt called "bubble boy"?

Houston patient: In the late 70's early 80's when not much could be done for scid, nasa designed the most sterile environment for a patient in houston, to avoid infections. Included was a space suit like. It worked relatively well. It was a 'bubble'. Social and psychological issues were significant however, and a matter of controversy. With bone marrow transplant advances, this extreme isolation is not needed. ...Read more

Dr. David Rosenthal
138 doctors shared insights

Severe Combined Immunodeficiency (Definition)

Severe combined immunodeficiency is a group of inherited conditions that result in severe abnormalities of the immune system. It usually causes one or more serious infections in newborns that ...Read more