Scientists find a new human disease

Knowridge , April 23, 2019

Recently, researchers have discovered a new human disease called combined immunoficiency, or CID.
They also have identified the gene ICOSLG, which is responsible for the disease.
The disease can weaken the immune system, and patients are susceptible to recurrent life-threatening infections like pneumonias and debilitating infections like progressive warts.
The new finding may help decide whether the disease can cause the immune deficiency that occurs as people with Down syndrome.
The research was done by a team from McGill University.
In the study, the researchers found this disease in a 36-year-old man who had endured recurrent sinusitis and pneumonias, yeast infections, and viral infections since childhood.
Previous medical checks did not look at all his symptoms as one disease but as separate and unrelated problems.
The patient’s disease is in the same family of conditions. But because he was an adult, no one thought to explore this possibility.
In the study, the team used a state-of-the-art technique called whole exome sequencing to evaluate the patient’s genes and compare his genes to those of his family members.
They found that the abnormal gene responsible for his disease is on Chromosome 21.
Previous research has found that Down syndrome’s patients, who have three Chromosomes of 21 (instead of the usual two), have a similar problem with their immune system.
Currently, the team has received many requests from doctors around the world to test patients who may have the same medical condition.
They hope to find solutions for both patients and their families.
The finding is published in the Journal of Experimental Medicine.
[ Copyright © 2019 Knowridge Science Report.]
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