Laboratory information
Last updated 2006-10-19
APS1 is diagnosed clinically by the presence of two of the three main manifestaions
- Mucocutanous candidiasis
- Hypoparathyroidism
- Primary adrenal failure
However, the clinical picture shows great variations in terms of the number of manifestations and age of debut even between individuals with the same mutation/within the same family. The disease may also manifest itself with one of the minor manifestations such as keratokonjunktivitis and chronic diarrhea..
In addition to clinical chemistry and endocrinological laboratory tests, analyses of the AIRE gene and various autoantibodies typical of APS1 is provided within the consortion
- DNA analysis of AIRE is performed at Haukeland University Hospital. Contact Prof. Eystein Husebye (eystein.husebye@med.uib.no) for futher information
- Assay of autoantibodies is performed by many of the partners in the consortion
- Uppsala, Sweden, contact prof. Olle Kämpe (olle.kampe@medsci.uu.se)
- Tartu, Estonia, contact prof. Raivo Uibo (Raivo.Uibo@ut.ee or part.peterson@ut.ee)
- Bergen, Norway, contact prof. Eystein Husebye (eystein.husebye@med.uib.no)
- Sheffield, United Kingdom, contact prof Anthony Weetman (a.p.weetman@sheffield.ac.uk)
- Hannover, Germany, contact prof. Michael Manns (manns.michael@mh-hannover.de)
- Padova, Italy, contact prof Corrado Betterle (corrado.betterle@unipd.it)
These analyses can be performed if your patient is included in the patient registry