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Doctor insights on: Severe Combined Immunodeficiency

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Dr. David Rosenthal
138 doctors shared insights

Severe Combined Immunodeficiency (Overview)

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 may be life threatening.


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How is severe combined immunodeficiency inhereited?

How is severe combined immunodeficiency inhereited?

Forms of SCID: The original question asked about scid (severe combined immunedeficiency), not cvid (common variable immunodeficiency). There are several types of scid. Scid can be transmitted by both x-linked, and autosomal recessive patterns. Patients with scid have a defect in their immune system that makes them vulnerable to deadly infections. See an immunologist if you suspect scid. ...Read more

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Dr. David Rosenthal
138 doctors shared insights

Severe Combined Immunodeficiency (Overview)

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 may be life threatening.


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How does the doctor diagnose severe combined immunodeficiency?

How does the doctor diagnose severe combined immunodeficiency?

Blood tests: Severe combined immunodeficiency is diagnosed in children with a few different tests. Some states (like ny, wi, ma) include scid screening with a trec assay on all newborns. Blood tests for t-cells, b-cells, nk-cells can be done as well. Lastly genetic tests, based on the t/b/nk cell info can be done. Seek the help of an immunodeficiency expert if you know a child with scid. ...Read more

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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

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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

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Does a dominant or recessive allele cause severe combined immunodeficiency?

Does a dominant or recessive allele cause severe combined immunodeficiency?

It's complicated: In short, you ask a good question, but the answer is much more complicated. There are different types of severe combined immunodeficiency (scid). Some are autosomal, and some are x-linked. Many require homozygous changes, others can occur with genetic compounds. None are "autosomal dominant". ...Read more

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Is there a way to treat severe combined immunodeficiency with gene therapy?

Is there a way to treat severe combined immunodeficiency with gene therapy?

Maybe: In the future gene therapy may be the way we treat scid, but right now the details of how to do this safely have not been proven. At the present time, bone marrow transplant is the mainstream of treatment. Trials may once again start with gene therapy at a few centers in the near future to see if this can be done safely. ...Read more

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Does anyone treat a baby with severe combined immunodeficiency?

Does anyone treat a baby with severe combined immunodeficiency?

SCID treatment: Highly-trained pediatric immunologists in hospital settings are generally the doctors who treat scid. A good place for you to start learning about this disorder is to go to the website of the immune deficiency foundation: www.Primaryimmune.Org or to go to the jeffrey modell centers website: www.Info4pi.Org. Your local allergist/immunologist can also refer you to the nearest facility in your area. ...Read more

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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

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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