| WOELLNER, Cristina, E. Michael GERTZ, Alejandro A. SCHAFFER, Macarena LAGOS, Mario PERRO, Erik-Oliver GLOCKER, Maria C. PIETROGRANDE, Fausto COSSU, José L. FRANCO, Nuria MATAMOROS, Barbara PIETRUCHA, Edyta HEROPOLITANSKA-PLISZKA, Mehdi YEGANEH, Mostafa MOIN, Teresa ESPAŇOL, Stephan EHL, Andrew GENNERY, Mario ABINUM, Anna BREBOROWICZ, Tim NIEHUES, Sebnem Sara KILIC, Anna JUNKER, Stuart E. TURVEY, Alesandro PLEBANI, Berta SÁNCHEZ, Ben-Zion GARTY, Claudio PIGNATA, Caterina CANCRINI, Jiří LITZMAN, Ozden SANAL, Ulrich BAUMANN, Rosa BACCHETA, Amy P. HSU, Joie N. DAVIS, Lennart HAMMARSTROM, Graham E. DAVIES, Efrem EREN, Peter D. ARKWRIGHT, Jukka MOILANEN, Dorothe VIEMANN, Sujoy KHAN, Lászlo MARODI, Andrew J. CANT, Alexandra F. FREEMAN, Jennifer M. PUCK, Steven M. HOLLAND a Bodo GRIMBACHER. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. United States: Mosby Inc., 2010, roč. 125, č. 2, s. 424-432. ISSN 0091-6749. |
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@article{872668,
author = {Woellner, Cristina and Gertz, E. Michael and Schaffer, Alejandro A. and Lagos, Macarena and Perro, Mario and Glocker, ErikandOliver and Pietrogrande, Maria C. and Cossu, Fausto and Franco, José L. and Matamoros, Nuria and Pietrucha, Barbara and HeropolitanskaandPliszka, Edyta and Yeganeh, Mehdi and Moin, Mostafa and Espaňol, Teresa and Ehl, Stephan and Gennery, Andrew and Abinum, Mario and Breborowicz, Anna and Niehues, Tim and Kilic, Sebnem Sara and Junker, Anna and Turvey, Stuart E. and Plebani, Alesandro and Sánchez, Berta and Garty, BenandZion and Pignata, Claudio and Cancrini, Caterina and Litzman, Jiří and Sanal, Ozden and Baumann, Ulrich and Baccheta, Rosa and Hsu, Amy P. and Davis, Joie N. and Hammarstrom, Lennart and Davies, Graham E. and Eren, Efrem and Arkwright, Peter D. and Moilanen, Jukka and Viemann, Dorothe and Khan, Sujoy and Marodi, Lászlo and Cant, Andrew J. and Freeman, Alexandra F. and Puck, Jennifer M. and Holland, Steven M. and Grimbacher, Bodo},
article_location = {United States},
article_number = {2},
keywords = {hyper-IgE syndrome; STAT3; diagnostic giudelines},
language = {eng},
issn = {0091-6749},
journal = {J Allergy Clin Immunol},
title = {Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome},
volume = {125},
year = {2010}
}
TY - JOUR
ID - 872668
AU - Woellner, Cristina - Gertz, E. Michael - Schaffer, Alejandro A. - Lagos, Macarena - Perro, Mario - Glocker, Erik-Oliver - Pietrogrande, Maria C. - Cossu, Fausto - Franco, José L. - Matamoros, Nuria - Pietrucha, Barbara - Heropolitanska-Pliszka, Edyta - Yeganeh, Mehdi - Moin, Mostafa - Espaňol, Teresa - Ehl, Stephan - Gennery, Andrew - Abinum, Mario - Breborowicz, Anna - Niehues, Tim - Kilic, Sebnem Sara - Junker, Anna - Turvey, Stuart E. - Plebani, Alesandro - Sánchez, Berta - Garty, Ben-Zion - Pignata, Claudio - Cancrini, Caterina - Litzman, Jiří - Sanal, Ozden - Baumann, Ulrich - Baccheta, Rosa - Hsu, Amy P. - Davis, Joie N. - Hammarstrom, Lennart - Davies, Graham E. - Eren, Efrem - Arkwright, Peter D. - Moilanen, Jukka - Viemann, Dorothe - Khan, Sujoy - Marodi, Lászlo - Cant, Andrew J. - Freeman, Alexandra F. - Puck, Jennifer M. - Holland, Steven M. - Grimbacher, Bodo
PY - 2010
TI - Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
JF - J Allergy Clin Immunol
VL - 125
IS - 2
SP - 424-432
EP - 424-432
PB - Mosby Inc.
SN - 00916749
KW - hyper-IgE syndrome
KW - STAT3
KW - diagnostic giudelines
N2 - The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells. OBJECTIVE: To determine whether there is a correlation between the genotype and the phenotype of patients with HIES and to establish diagnostic criteria to distinguish between STAT3 mutated and STAT3 wild-type patients. METHODS: We collected clinical data, determined T(H)17 cell numbers, and sequenced STAT3 in 100 patients with a strong clinical suspicion of HIES and serum IgE >1000 IU/mL. We explored diagnostic criteria by using a machine-learning approach to identify which features best predict a STAT3 mutation. RESULTS: In 64 patients, we identified 31 different STAT3 mutations, 18 of which were novel. These included mutations at splice sites and outside the previously implicated DNA-binding and Src homology 2 domains. A combination of 5 clinical features predicted STAT3 mutations with 85% accuracy. T(H)17 cells were profoundly reduced in patients harboring STAT3 mutations, whereas 10 of 13 patients without mutations had low (<1%) T(H)17 cells but were distinct by markedly reduced IFN-gamma-producing CD4(+)T cells. CONCLUSION: We propose the following diagnostic guidelines for STAT3-deficient HIES. Possible: IgE >1000IU/mL plus a weighted score of clinical features >30 based on recurrent pneumonia, newborn rash, pathologic bone fractures, characteristic face, and high palate. Probable: These characteristics plus lack of T(H)17 cells or a family history for definitive HIES. Definitive: These characteristics plus a dominant-negative heterozygous mutation in STAT3
ER -
WOELLNER, Cristina, E. Michael GERTZ, Alejandro A. SCHAFFER, Macarena LAGOS, Mario PERRO, Erik-Oliver GLOCKER, Maria C. PIETROGRANDE, Fausto COSSU, José L. FRANCO, Nuria MATAMOROS, Barbara PIETRUCHA, Edyta HEROPOLITANSKA-PLISZKA, Mehdi YEGANEH, Mostafa MOIN, Teresa ESPAŇOL, Stephan EHL, Andrew GENNERY, Mario ABINUM, Anna BREBOROWICZ, Tim NIEHUES, Sebnem Sara KILIC, Anna JUNKER, Stuart E. TURVEY, Alesandro PLEBANI, Berta SÁNCHEZ, Ben-Zion GARTY, Claudio PIGNATA, Caterina CANCRINI, Jiří LITZMAN, Ozden SANAL, Ulrich BAUMANN, Rosa BACCHETA, Amy P. HSU, Joie N. DAVIS, Lennart HAMMARSTROM, Graham E. DAVIES, Efrem EREN, Peter D. ARKWRIGHT, Jukka MOILANEN, Dorothe VIEMANN, Sujoy KHAN, Lászlo MARODI, Andrew J. CANT, Alexandra F. FREEMAN, Jennifer M. PUCK, Steven M. HOLLAND a Bodo GRIMBACHER. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. \textit{J Allergy Clin Immunol}. United States: Mosby Inc., 2010, roč.~125, č.~2, s.~424-432. ISSN~0091-6749.
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