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

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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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Dr. Dawn Sokol
177 doctors shared insights

Weak Immune System (Definition)

that's when a person has a weakened immune system from whatever reason: drugs, infection, malnutrition, etc. While immunodeficiency, is when an arm of the immune system is weakened or absent, can be something primary (born with) or secondary (acquired later in life) ...Read more


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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

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

Yes, experimental: Over 30 patients with severe combined immunodeficiency (scid) have been treated with gene therapy. They have included Adenosine deaminase deficiency form and the x-linked form. Results have been highly promising and favorable compared to bone marrow transplantation. Long-term benefits and side effects are still been studied. ...Read more

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Are there any gene therapies available to treat infectious diseases and if so, is it possible for mutations to create a immunity to the therapy?

Are there any gene therapies available to treat infectious diseases and if so, is it possible for mutations to create a immunity to the therapy?

Not there yet: Good question- the short answer is no. Major hurdles are still being worked out such as how to deliver or alter a gene so it doesn't harm the patient, as well as avoiding mutations that will will offset the benefits of gene therapy. ...Read more

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In general, if a 91 yr-old has acute transformation of a myeloproliferative disorder then is it worthwhile to treat the pt, if there is a treatment?

It depends: It depends on the Diagnosis of the new transformations(there are multiple ways transformation occurs...so tell us what is the new diagnosis and we can guide you further. ...Read more

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Is there a way to test for suspected under- or malabsorption of antidepressant or atypical anti-psychotic medication? Can all be tested the same way?

Is there a way to test for suspected under- or malabsorption of antidepressant or atypical anti-psychotic medication?  Can all be tested the same way?

Psychopharmacogenomi: the recent introduction of testing for genetic profile and how meds are absorbed, transported & utilized by the body has been of great help in recognizing and identifying patients that either rapidly or slowly metabolize medications. so testing can shed light on how your body handles these meds and give some guidance ( not definitive) in using meds in your case. good luck and feel better ...Read more

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Is there a way to be easily tested for renal hypertension as a possible cause of secondary HTN? Why is it such an involved procedure?

Is there a way to be easily tested for renal hypertension as a possible cause of secondary HTN? Why is it such an involved procedure?

Screening?: You can be screen for renal hypertension using an Ultrasound study with doppler to evaluate artery flows and renal artery stenosis. This test is easily done in most hospitals with no pain and no preparation. ...Read more

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Is there a vitamin for negative OCD thoughts or a natural way to cure ?

Is there a vitamin for negative OCD thoughts or a natural way to cure ?

OCD: There is no vitamin for OCD help but there are specific psychological treatments. Cognitive therapy from a clinical psychologist can be helpful. Be sure to select a therapist who specializes in OCD. Peace and good health. ...Read more

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Is there any test than can be done to test for carrier of glycogen storage disease type 1a ?

Is there any test than can be done to test for carrier  of glycogen storage  disease type 1a ?

Von Gierke Disease: Molecular genetic testing for mutations of the G6PC gene on chromosome 17q21 is available. If 1 parent is a carrier, the other parent needs testing. If both are carriers, each fetus. has a 25% chance of inheriting the mutant gene from both parents, thus having VGD. Prenatal molecular genetic testing of amniotic fluid is also available. Call 1300-88-1362 or see http://m.dna-laboratories.com. ...Read more

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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

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Is there a genetic test to see if someone has chiari?

Is there a genetic test to see if someone has chiari?

No: Children born with open spina bifida are at increased risk for chiari type 2 due to lower position of posterior brain structures. There may be some increased risk for this problem in some families but there is a nutritional role and other factors also. Adults without any spina bifida history can get chiari type 1. There is no firm genetic pattern that is predictive of the chiari type 1. ...Read more

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Is there a permanent cure for IBS,What should be done in terms of diet and exercise.Any medicine or treatment which can cure it.Help.Thanks?

Is there a permanent cure for IBS,What should be done in terms of diet and exercise.Any medicine or treatment which can cure it.Help.Thanks?

IBS, no cure: increasing your intake of fiber-rich foods (fruits, vegetables, beans and whole grains) can improve your condition and encourage normal bowel movements. Unfortunately, too much fiber can worsen symptoms of irritable bowel syndrome, wherein you may deal with abdominal bloating and gas. Limit your fiber intake to 20 to 35 grams a day, and slowly increase your intake to ward off bloating ...Read more

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What is the most effective treatment for arthritis thus far? And are we any closer to finding a cure for auto immune diseases?

What is the most effective treatment for arthritis thus far? And are we any closer to finding a cure for auto immune diseases?

Yes: It depends on the type of arthritis. When i was in medical school in the 1970's, about one person in 150 would have their life ruined by autoimmune arthritis. The immunomodulators produced by biotechnology have greatly improved the outlook for severe disease and have proved surprisingly safe. It's still a rough and frustrating disease but progress continues. Stay proactive -- and good luck. ...Read more

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Dr. David Rosenthal
139 doctors shared insights

Severe Combined Immunodeficiency (Definition)

Severe combined immunodeficiency or SCID is a genetic disorder. Patients have non functioning T and B cells - cells that are critical parts of immune system. Patients are susceptible to bacterial, fungal and viral infections as they lack defenses ...Read more