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 GENTAUR Europe BVBAVoortstraat 49, 1910 Kampenhout BELGIUM Tel 0032 16 58 90 45 Fax 0032 16 50 90 45 This email address is being protected from spambots. You need JavaScript enabled to view it.">This email address is being protected from spambots. You need JavaScript enabled to view it. |
GENTAUR BULGARIA
53 Iskar Str. 1191 Kokalyane, Sofia
Tel 0035924682280
Fax 0035929830072
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GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50
Fax 01 43 25 01 60
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GmbH Marienbongard 20
52062 Aachen Deutschland
Tel (+49) 0241 56 00 99 68
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GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531
Fax 020 8445 9411
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GENTAUR Poland Sp. z o.o.
ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
Tel 058 710 33 44
Fax 058 710 33 48
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GENTAUR Nederland BV
Kuiper 1
5521 DG Eersel Nederland
Tel 0208-080893
Fax 0497-517897
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GENTAUR SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6, 24122 Bergamo
Tel 02 36 00 65 93
Fax 02 36 00 65 94
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GENTAUR Spain
Tel 0911876558
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Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
Phone/Fax:
(408) 780-0908
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GENPRICE Inc. invoicing/ accounting:
6017 Snell Ave, Suite 357
San Jose, CA. 96123
Serbia, 
Macedonia,
Montenegro, 
Croatia:
Tel 0035929830070
Fax 0035929830072
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GENTAUR Romania
Tel 0035929830070
Fax 0035929830072
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GENTAUR Greece
Tel 00302111768494
Fax 0032 16 50 90 45
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Other countries
Luxembourg +35220880274
Schweiz Züri +41435006251
Danmark +4569918806
Österreich +43720880899
Ceská republika Praha +420246019719
Ireland Dublin +35316526556
Norge Oslo +4721031366
Finland Helsset +358942419041
Sverige Stockholm +46852503438
Magyarország Budapest +3619980547
Discovery of Previously Unknown Immunodeficiency
Severe autoimmunity in childhood can be an indication of a primary immunodeficiency (PID) -- this has now been demonstrated in a 13-year-old patient by a research group from the MedUni Vienna belonging to the CeMM Research Center for Molecular Medicine of the AAS and the St. Anna paediatric hospital. A previously unknown B-cell defect was identified in the teenager with the aid of so-called "next generation sequencing," with which genetic mutations in the genetic material can be detected within a few days. The study has been published in the leading journal Blood.
"Our discovery created a sense of relief in the family as they now know at last what is wrong with the boy," says Kaan Boztug, who works routinely as a doctor at the University Department of Paediatrics and Adolescent Medicine treating seriously ill children, and as a researcher at CeMM, searching for the molecular causes of diseases of the immune system using the most modern genetic technologies. 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." Severe autoimmunity develops as a consequence.
According to Boztug and Elisabeth Förster-Waldl, paediatrician and immunologist at the University Department of Paediatrics and Adolescent Medicine of the MedUni Vienna, not only diagnostic, but also therapeutic, consequences can be derived from the recently successful molecular identification of the deficiency. From early childhood the patient had suffered periodically from severe autoimmunity of the kidneys, lymph nodes and connective tissues. The now 13-year-old had previously been globally immunosuppressed with cortisone for long periods but now the target of the therapy can be precisely isolated. Says Förster-Waldl: "Only when you know the mechanism, an individually-tailored therapy can be appropriately used or developed."
Data from the Anglo-American world assume that 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.
At present around 30 to 40 percent of these deficiencies remain without a precise diagnosis according to Förster-Waldl. This could now change with the aid of the latest diagnostic processes including "next generation sequencing." Most immunodeficiencies are classified as so-called "rare diseases." Kaan Boztug: "However, the sum total of all these defects cannot be categorised as rare."
