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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED
Human Mutation, Volume 18, No. 3, Year 2001
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Description
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive disorder that results in several autoimmune diseases due to the mutations in the AIRE (autoimmune regulator) gene. APECED patients develop several autoimmune endocrine disorders and are characterized by the high titer autoantibodies to organ-specific antigens such as the steroidogenic P450 cytochromes. So far, 38 mutations have been identified in the AIRE gene. We report here the genetic and autoantibody analysis of 27 APECED patients of Eastern and Central European origins and one Egyptian patient. From 54 analyzed APECED chromosomes, eight mutations were detected, four of which (T16M, W78R, IVS1_IVS4, 30-53dup23bp) are novel. The most prevalent reason for APECED in these populations was the occurrence of R257X (36 chromosomes) that has been described earlier as a common and recurrent mutation in several other populations. The analysis of humoral immunity to steroidogenic P450 cytochromes by the immunoblotting of E. coli expressed antigens in the 18 APECED patients showed that 67%, 44%, and 61% of the Eastern and Central European APECED patients had autoantibodies to P450c17, P450c21, and P450scc, respectively. © 2001 Wiley-Liss, Inc.
Authors & Co-Authors
Cihakova, Daniela
Finland, Tampere
Tampere University
Czech Republic, Prague
Charles University
Trebusak, Katarina
Slovenia, Ljubljana
University Children’s Hospital
Heino, Maarit
Finland, Tampere
Tampere University
Fadeyev, Valentin
Russian Federation, Moscow
Sechenov First Moscow State Medical University
Tiulpakov, Anatoly
Russian Federation, Moscow
Ministry of Health of Russian Federation
Battelino, Tadej
Slovenia, Ljubljana
University Children’s Hospital
Tar, Attila
Hungary, Budapest
Heim-madarász Hospital
Halsz, Zita
Hungary, Budapest
Semmelweis Egyetem
Blmel, Peter
Austria, Vienna
Prayerisches Kinderspital
Tawfik, Sameh
Egypt, Cairo
Maadi Hospital
Krohn, Kai J.E.
Finland, Tampere
Tampere University
Lebl, Jan
Czech Republic, Prague
Charles University
Peterson, Pärt
Finland, Tampere
Tampere University
Finland, Tampere
University of Tampere Institute of Medical Technology
Statistics
Citations: 93
Authors: 13
Affiliations: 10
Identifiers
Doi:
10.1002/humu.1178
ISSN:
10597794
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy