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Prompt detection of immune defects can save lives

(Vienna 23rd April 2012) “The prompt detection of immune defects can save lives,” said Elisabeth Förster-Waldl, Paediatrician and Immunologist from the University Department of Paediatrics and Adolescent Medicine at the MedUni Vienna on Monday at an event marking the start of the worldwide "Primary Immune Defects Week" (PI Week) and World Immunology Day on the 29th of April. Doctors are currently aware of around 170 of these diseases. The earlier a defect of this kind is detected, the easier it is to avoid consequential damage. The MedUni Vienna, together with the St. Anna Children's Hospital, is Austria's largest centre for primary immune defects.

Primary immune defects (PID) are genetic, in some cases hereditary diseases of the immune system that are associated with an increased risk of infection and which can also cause autoimmune symptoms, allergic conditions and skin diseases. The earlier a defect is detected, the easier it is to prevent lifelong consequential damage such as chronic lung changes (e.g. bronchiectasis) and the easier it is to improve the quality of life of the patients affected by it. Says Förster-Waldl: “If a defect of this kind is not diagnosed in good time, the consequences can be serious. Irreversible tissue damage, for example, can be caused by constant infections – particularly in the respiratory system. It is therefore advisable to consider a possible immune defect if the symptoms fit.”

Molecular medicine has achieved major advances in the diagnosis of these conditions. “As little as ten years ago, we knew of maybe a dozen genetic defects that led to congenital immunological problems. We are now aware of 150-170,” explains Kaan Boztug, Paediatrician and Immunogeneticist from the University Department of Paediatrics and Adolescent Medicine at the MedUni Vienna and research group leader at the CeMM research centre for molecular medicine.

There are always indicators of an immune defect, says Förster-Waldl, if infections or conditions occur of an irregular, frequent and unusual form for the patient’s age. In this case, immunology laboratory diagnostics and often immunogenetic analysis are advisable. Warning signs of immune defects include the increased occurrence of inflammation of the lungs or sinuses, middle ear or meninges, sepsis or even infectious diseases compounded by autoimmune diseases and/or allergies and skin conditions. Warning indicators of an immune defect can also be found on the website of the Jeffrey Modell Foundation (www.info4pi.org).

If an as yet unknown immune defect is noted, a process known as “Next Generation Sequencing” is used. “Thanks to state-of-the-art genome technologies, we are now able to sequence entire genomes within just a few days and therefore identify the culprit mutation in many patients,” explains Boztug. “A molecular understanding of primary immune defects represents an important principle for the development of modern, targeted therapies.”

At least 1,000 people in Austria affected

Estimates state that a million people worldwide are affected by primary immune defects, with 8—10,000 people having a genetic PID that has life-threatening consequences for them. “We suspect that 70 to 90 per cent of all these defects remain undiagnosed correctly," says Förster-Waldl. “Clinical presentations of an immune disease can manifest themselves in childhood or not until adolescence or adulthood. In Austria, according to European indices, there must be at least 1,000 people living with primary immune defects, and we therefore know that there are high numbers of undetected cases," says Förster-Waldl.

Service: International PI Week (22 – 29 April 2012)
All information on the International Primary Immune Defects Week (PI Week) can be found here: www.worldpiweek.org. The International World Immunology Day is being held on 29 April.