Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding

被引：38

作者：

Frans, Glynis ^{[1
]}

Moens, Leen ^{[1
]}

Schaballie, Heidi ^{[1
,8
]}

Van Eyck, Lien ^{[8
]}

Borgers, Heleen ^{[1
]}

Wuyts, Margareta ^{[1
]}

Dillaerts, Doreen ^{[1
]}

Vermeulen, Edith ^{[3
]}

Dooley, James ^{[2
]}

Grimbacher, Bodo ^{[4
]}

Cant, Andrew ^{[5
,6
]}

Declerck, Dominique ^{[7
]}

Peumans, Marleen ^{[7
]}

Renard, Marleen ^{[8
]}

De Boeck, Kris ^{[8
]}

Hoffman, Ilse ^{[8
]}

Francois, Inge ^{[8
]}

Liston, Adrian ^{[2
]}

Claessens, Frank ^{[9
]}

Bossuyt, Xavier ^{[1
]}

Meyts, Isabelle ^{[1
,8
]}

机构：

[1] Katholieke Univ Leuven, Dept Microbiol & Immunol, Expt Immunol Lab, Leuven, Belgium

[2] Vlaams Inst Biotechnol, Lab Genet Autoimmun, Leuven, Belgium

[3] Katholieke Univ Leuven, Dept Microbiol & Immunol, Lab Clin Bacteriol & Mycol, Leuven, Belgium

[4] Univ Hosp, Ctr Chron Immunodeficiency, Freiburg, Germany

[5] Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[6] Great North Childrens Hosp, Pediat Immunol Serv, Newcastle Upon Tyne, Tyne & Wear, England

[7] Katholieke Univ Leuven, Univ Hosp Leuven, Sch Dent, Dept Conservat Dent, Leuven, Belgium

[8] Univ Hosp Leuven, Dept Pediat, Leuven, Belgium

[9] Katholieke Univ Leuven, Dept Cellular & Mol Med, Mol Endocrinol Lab, Leuven, Belgium

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2014年 / 134卷 / 05期

关键词：

IMMUNOHISTOCHEMICAL LOCALIZATION; RAT MOLARS; T-CELLS;

D O I：

10.1016/j.jaci.2014.05.044

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：1209 / 1213

页数：7

共 11 条

[1] Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay [J].

Borgers, Heleen ;

Moens, Leen ;

Picard, Capucine ;

Jeurissen, Axel ;

Raes, Marc ;

Sauer, Kate ;

Proesmans, Marijke ;

De Boeck, Kris ;

Casanova, Jean-Laurent ;

Meyts, Isabelle ;

Bossuyt, Xavier .

CLINICAL IMMUNOLOGY, 2010, 134 (02) :198-205

[2] Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis [J].

Liu, Luyan ;

Okada, Satoshi ;

Kong, Xiao-Fei ;

Kreins, Alexandra Y. ;

Cypowyj, Sophie ;

Abhyankar, Avinash ;

Toubiana, Julie ;

Itan, Yuval ;

Audry, Magali ;

Nitschke, Patrick ;

Masson, Cecile ;

Toth, Beata ;

Flatot, Jerome ;

Migaud, Melanie ;

Chrabieh, Maya ;

Kochetkov, Tatiana ;

Bolze, Alexandre ;

Borghesi, Alessandro ;

Toulon, Antoine ;

Hiller, Julia ;

Eyerich, Stefanie ;

Eyerich, Kilian ;

Gulacsy, Vera ;

Chernyshova, Ludmyla ;

Chernyshov, Viktor ;

Bondarenko, Anastasia ;

Cortes Grimaldo, Rosa Maria ;

Blancas-Galicia, Lizbeth ;

Madrigal Beas, Ileana Maria ;

Roesler, Joachim ;

Magdorf, Klaus ;

Engelhard, Dan ;

Thumerelle, Caroline ;

Burgel, Pierre-Regis ;

Hoernes, Miriam ;

Drexel, Barbara ;

Seger, Reinhard ;

Kusuma, Theresia ;

Jansson, Annette F. ;

Sawalle-Belohradsky, Julie ;

Belohradsky, Bernd ;

Jouanguy, Emmanuelle ;

Bustamante, Jacinta ;

Bue, Melanie ;

Karin, Nathan ;

Wildbaum, Gizi ;

Bodemer, Christine ;

Lortholary, Olivier ;

Fischer, Alain ;

Blanche, Stephane .

JOURNAL OF EXPERIMENTAL MEDICINE, 2011, 208 (08) :1635-1648

[3] The immunohistochemical localization of the interferon-γ and granulocyte colony-stimulating factor receptors during early amelogenesis in rat molars [J].

Otsuji, W ;

Tanase, S ;

Yoshida, S ;

Bawden, JW .

ARCHIVES OF ORAL BIOLOGY, 1999, 44 (02) :173-181

[4] Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis [J].

Sampaio, Elizabeth P. ;

Hsu, Amy P. ;

Pechacek, Joseph ;

Bax, Hannelore I. ;

Dias, Dalton L. ;

Paulson, Michelle L. ;

Chandrasekaran, Prabha ;

Rosen, Lindsey B. ;

Carvalho, Daniel S. ;

Ding, Li ;

Vinh, Donald C. ;

Browne, Sarah K. ;

Datta, Shrimati ;

Milner, Joshua D. ;

Kuhns, Douglas B. ;

Priel, Debra A. Long ;

Sadat, Mohammed A. ;

Shiloh, Michael ;

De Marco, Brendan ;

Alvares, Michael ;

Gillman, Jason W. ;

Ramarathnam, Vivek ;

de la Morena, Maite ;

Bezrodnik, Liliana ;

Moreira, Ileana ;

Uzel, Gulbu ;

Johnson, Daniel ;

Spalding, Christine ;

Zerbe, Christa S. ;

Wiley, Henry ;

Greenberg, David E. ;

Hoover, Susan E. ;

Rosenzweig, Sergio D. ;

Galgiani, John N. ;

Holland, Steven M. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 131 (06) :1624-+

[5] New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe [J].

Soltesz, Beata ;

Toth, Beata ;

Shabashova, Nadejda ;

Bondarenko, Anastasia ;

Okada, Satoshi ;

Cypowyj, Sophie ;

Abhyankar, Avinash ;

Csorba, Gabriella ;

Tasko, Szilvia ;

Sarkadi, Adrien Katalin ;

Mehes, Leonora ;

Rozsival, Pavel ;

Neumann, David ;

Chernyshova, Liudmyla ;

Tulassay, Zsolt ;

Puel, Anne ;

Casanova, Jean-Laurent ;

Sediva, Anna ;

Litzman, Jiri ;

Marodi, Laszlo .

JOURNAL OF MEDICAL GENETICS, 2013, 50 (09) :567-578

[6] Chronic Mucocutaneous Candidiasis Caused by a Gain-of-Function Mutation in the STAT1 DNA-Binding Domain [J].

Takezaki, Shunichiro ;

Yamada, Masafumi ;

Kato, Masahiko ;

Park, Myoung-ja ;

Maruyama, Kenichi ;

Yamazaki, Yasuhiro ;

Chida, Natsuko ;

Ohara, Osamu ;

Kobayashi, Ichiro ;

Ariga, Tadashi .

JOURNAL OF IMMUNOLOGY, 2012, 189 (03) :1521-1526

[7] The immunohistochemical localization of signal-transduction pathway components JAK1, JAK2, JAK3, TYK2 and STAT-1 during early enamel and dentine formation in rat molars [J].

Tanase, S ;

Bawden, JW .

ARCHIVES OF ORAL BIOLOGY, 1996, 41 (10) :925-940

[8] Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma [J].

Tsai, Yi-Giien ;

Niu, Dau-Ming ;

Yang, Kuender D. ;

Hung, Chih-Hsing ;

Yeh, Ya-Ju ;

Lee, Chia-Ying ;

Lin, Ching-Yuang .

LABORATORY INVESTIGATION, 2012, 92 (09) :1260-1269

[9] Induction of IL-10+CD4+CD25+regulatory T cells with decreased NF-κB expression during immunotherapy [J].

Tsai, Yi-Giien ;

Chiou, Ya-Ling ;

Chien, Jien-Wen ;

Wu, Han-Ping ;

Lin, Ching-Yuang .

PEDIATRIC ALLERGY AND IMMUNOLOGY, 2010, 21 (01) :E166-E173

[10] Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome [J].

Uzel, Gulbu ;

Sampaio, Elizabeth P. ;

Lawrence, Monica G. ;

Hsu, Amy P. ;

Hackett, Mary ;

Dorsey, Morna J. ;

Noel, Richard J. ;

Verbsky, James W. ;

Freeman, Alexandra F. ;

Janssen, Erin ;

Bonilla, Francisco A. ;

Pechacek, Joseph ;

Chandrasekaran, Prabha ;

Browne, Sarah K. ;

Agharahimi, Anahita ;

Gharib, Ahmed M. ;

Mannurita, Sara C. ;

Yim, Jae Joon ;

Gambineri, Eleonora ;

Torgerson, Troy ;

Tran, Dat Q. ;

Milner, Joshua D. ;

Holland, Steven M. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 131 (06) :1611-+

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