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Blood: A New Immune “Rare Disease” Has Been Identified

Recently a paper on the Blood journal revealed that a research group found a new kind of B-cell defect, which stated that severe autoimmunity in childhood can be an indication of a primary immunodeficiency (PID). The result was gained on a 13-year-old patient with the novel genetic technology.

Since earlier time, the patient has been suffering severe autoimmunity of the kidneys, lymph nodes and connective tissues periodically. The patient had previously been administrated with cortisone for a long time. Due to the discovery, the target of the therapy can be precisely isolated as one of the researchers said, "Only when you know the mechanism, an individually-tailored therapy can be appropriately used or developed."

According to data from the Anglo-American world, the prevalence of a clinically relevant immunodeficiency that can sometimes involve life-threatening consequences for those affected lies at between 1:1200 and 1:2000. Such figures can only be estimated for Austria as the systematic collection of data has only been taking place for the last two years.


Currently there are still 30 to 40 percent around of these deficiencies without precise diagnosis and most immunodeficiencies are classified as so-called "rare diseases." However, compared to the sum total of all these defects, they cannot be categorized as rare.


Using the most modern genetic technologies, researchers searched for the molecular causes of diseases of the immune system. In this specific case, a defect in the PRKCD gene was discovered. This causes a malfunction in the regulation of the B lymphocytes which are regarded as "antibody factories." As a result, severe autoimmunity consequences developed.


Not only diagnostic, but also therapeutic, consequences can be derived from the recently successful molecular identification of the deficiency.


Article Link: Blood: A New Immune “Rare Disease” Has Been Identified

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