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publicado em 24/02/2013 às 11h00:00
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Austrian researchers identify previously unknown immunodeficiency

The diagnosis of primary immunodeficiency (PID) caused by defect in B cells, was made in a boy of 13 years old

 
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Researchers at the Medical University of Vienna in Austria have identified a type of severe immunodeficiency previously unknown
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Researchers at the Medical University of Vienna in Austria have identified a type of severe immunodeficiency previously unknown

Researchers at the Medical University of Vienna in Austria have identified a previously unknown severe immunodeficiency.

The diagnosis of primary immunodeficiency (PID) was made in a boy of 13 years old. The study was published in the journal "Blood."

A previously unknown defect of B cells was identified in the teen with the help of genetic sequencing, which allows detecting genetic mutations in DNA within a few days.

"Our discovery has created a sense of relief in the family, as we now finally know what is wrong with the boy," says researcher Kaan Boztug.

The team identified a defective gene PRKCD. This causes a breakdown in the regulation of B lymphocytes, which are considered "antibody factories". Severe Autoimmunity develops as a consequence.

Since childhood the patient suffered periodically from severe autoimmune kidney, lymph nodes and tissues. Now 13 years old, the boy had been immunosuppressed with cortisone for long periods, but now the target of the therapy can be precisely isolated. "Only when you know the mechanism, individually tailored therapy can be properly used or developed," the researchers note.

Currently about 30 to 40% of the deficiencies must remain undiagnosed. That may change now with the help of the latest diagnostic procedures, including "genetic sequencing." Most immunodeficiencies are classified as "rare".

Source: Isaude.net
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Immunodeficiency    primary immunodeficiency    Medical University of Vienna    Kaan Boztug    rare diseases    World Rare Disease Day   
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