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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups
Molecular Immunology, Volume 46, No. 1, Year 2008
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Description
We performed clinical, immunological and genetic studies of 12 hyper-IgE syndrome (HIES) patients from 4 Hungarian, 2 Lebanese, one Russian, one Polish, and one Swedish families with autosomal dominant (AD) or sporadic forms of the disease to reveal cross-ethnicity of recurrent and novel mutations in the signal transducer and activator of transcription-3 gene (STAT3). Four patients from 3 Hungarian families, and one Russian, and one Swedish patient carried the heterozygous R382W germline mutation at the DNA-binding site of STAT3. The recurrent V637M mutation affecting the SRC homology 2 (SH2) domain was detected in one Lebanese and one Polish family, and the V463del deletion located in the DNA-binding domain was unveiled in another Lebanese family. A novel H332Y mutation affecting the DNA-binding site of STAT3 in three Hungarian patients from a Gypsy family was also found. The segregation of this mutation with HIES, restriction fragment length polymorphism analysis of STAT3 from patients and controls and the negligible production upon IL-6 stimulation of monocyte chemotactic protein-1 by the patient's blood mononuclear cells suggested that the H332Y mutation was disease-causing. These data suggest, that dominant negative mutations of the DNA-binding and SH2 domains of STAT3 cause AD and sporadic cases of HIES in different ethnic groups with R382W as the predominant mutation found in 5 of the 9 families. Functional and genetic data support that the novel H332Y mutation may result in the loss of function of STAT3 and leads to the HIES phenotype. © 2008 Elsevier Ltd. All rights reserved.
Authors & Co-Authors
Jiao, Hong
Sweden, Stockholm
Karolinska Institutet
Tóth, Beáta
Hungary, Debrecen
Általános Orvostudományi Kar
Erdós, Melinda D.R.
Hungary, Debrecen
Általános Orvostudományi Kar
Fransson, Ingegerd
Sweden, Stockholm
Karolinska Institutet
Rákóczi, Éva
Hungary, Debrecen
Általános Orvostudományi Kar
Balogh, István
Hungary, Debrecen
Általános Orvostudományi Kar
Magyarics, Zoltán
Hungary, Debrecen
Általános Orvostudományi Kar
Dérfalvi, Beáta Ta
Hungary, Budapest
Semmelweis Egyetem
Csorba, Gabriella
Hungary, Debrecen
Általános Orvostudományi Kar
Szaflarska, Anna
Poland, Krakow
Uniwersytecki Szpital Dziecięcy w Krakowie
Megarbane, Andre
Lebanon, Beirut
Hôtel-dieu de France Hospital
Akatchérian, Carlo Y.
Lebanon, Beirut
Hôtel-dieu de France Hospital
Dbaibo, Ghassan S.
Lebanon, Beirut
American University of Beirut
Rajnavölgyi, Éva
Hungary, Debrecen
Általános Orvostudományi Kar
Hammarström, Lennart L.G.
Sweden, Stockholm
Karolinska Institutet
Kere, Juha F.
Sweden, Stockholm
Karolinska Institutet
Lefranc, Gérard
France, Montpellier
Laboratoire Cnrs Laboratoire D'immunogénétique Moléculaire
Máródi, László D.R.
Hungary, Debrecen
Általános Orvostudományi Kar
Statistics
Citations: 84
Authors: 18
Affiliations: 7
Identifiers
Doi:
10.1016/j.molimm.2008.07.001
Research Areas
Cancer
Genetics And Genomics
Health System And Policy