Novel STAT1 gain-of-function mutation and suppurative infections

被引：14

作者：

Giardino, Giuliana ^{[1
]}

Somma, Domenico ^{[2
]}

Cirillo, Emilia ^{[1
]}

Ruggiero, Giuseppina ^{[1
]}

Terrazzano, Giuseppe ^{[1
,3
]}

Rubino, Valentina ^{[1
]}

Ursini, Matilde Valeria ^{[4
]}

Vairo, Donatella ^{[5
,6
]}

Badolato, Raffaele ^{[6
,7
,8
]}

Carsetti, Rita ^{[9
]}

Leonardi, Antonio

Puel, Anne ^{[10
,11
]}

Pignata, Claudio ^{[1
]}

机构：

[1] Univ Naples Federico II, Dept Translat Med Sci, Naples, Italy

[2] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy

[3] Univ Basilicata, Dept Sci, I-85100 Potenza, Italy

[4] IGB CNR, Int Inst Genet & Biophys, Naples, Italy

[5] Univ Brescia, Inst Mol Med Angelo Nocivelli, Dept Mol & Translat Med, Brescia, Italy

[6] SpedaliCivili Brescia, Brescia, Italy

[7] Univ Brescia, Dept Clin & Expt Sci, Pediat Clin, Brescia, Italy

[8] Univ Brescia, Inst Mol Med Angelo Nocivelli, Brescia, Italy

[9] IRCCS, Osped Pediat Bambino Gesu, Res Ctr, Rome, Italy

[10] INSERM, UMR, Lab Human Genet Infect Dis, Necker Branch, F-75654 Paris 13, France

[11] Paris Descartes Univ, Imagine Inst, Paris, France

来源：

PEDIATRIC ALLERGY AND IMMUNOLOGY | 2016年 / 27卷 / 02期

关键词：

CHRONIC MUCOCUTANEOUS CANDIDIASIS; SIGNAL TRANSDUCER; ACTIVATOR;

D O I：

10.1111/pai.12496

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：220 / 223

页数：4

共 10 条

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

Frans, Glynis ;

Moens, Leen ;

Schaballie, Heidi ;

Van Eyck, Lien ;

Borgers, Heleen ;

Wuyts, Margareta ;

Dillaerts, Doreen ;

Vermeulen, Edith ;

Dooley, James ;

Grimbacher, Bodo ;

Cant, Andrew ;

Declerck, Dominique ;

Peumans, Marleen ;

Renard, Marleen ;

De Boeck, Kris ;

Hoffman, Ilse ;

Francois, Inge ;

Liston, Adrian ;

Claessens, Frank ;

Bossuyt, Xavier ;

Meyts, Isabelle .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 134 (05) :1209-1213

[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] Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species [J].

Marodi, Laszlo ;

Cypowyj, Sophie ;

Toth, Beata ;

Chernyshova, Liudmyla ;

Puel, Anne ;

Casanova, Jean-Laurent .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, 130 (05) :1019-1027

[4] Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis [J].

Mizoguchi, Yoko ;

Tsumura, Miyuki ;

Okada, Satoshi ;

Hirata, Osamu ;

Minegishi, Shizuko ;

Imai, Kohsuke ;

Hyakuna, Nobuyuki ;

Muramatsu, Hideki ;

Kojima, Seiji ;

Ozaki, Yusuke ;

Imai, Takehide ;

Takeda, Sachiyo ;

Okazaki, Tetsuya ;

Ito, Tsuyoshi ;

Yasunaga, Shin'ichiro ;

Takihara, Yoshihiro ;

Bryant, Vanessa L. ;

Kong, Xiao-Fei ;

Cypowyj, Sophie ;

Boisson-Dupuis, Stephanie ;

Puel, Anne ;

Casanova, Jean-Laurent ;

Morio, Tomohiro ;

Kobayashi, Masao .

JOURNAL OF LEUKOCYTE BIOLOGY, 2014, 95 (04) :667-676

[5] 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-+

[6] 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

[7] Herpes in STAT1 deficiency [J].

Toth, Beata ;

Mehes, Leonora ;

Tasko, Szilvia ;

Szalai, Zsuzsanna ;

Tulassay, Zsolt ;

Cypowyj, Sophie ;

Casanova, Jean-Laurent ;

Puel, Anne ;

Marodi, Laszlo .

LANCET, 2012, 379 (9835) :2500-2500

[8] 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-+

[9] STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis [J].

van de Veerdonk, Frank L. ;

Plantinga, Theo S. ;

Hoischen, Alexander ;

Smeekens, Sanne P. ;

Joosten, Leo A. B. ;

Gilissen, Christian ;

Arts, Peer ;

Rosentul, Diana C. ;

Carmichael, Andrew J. ;

Smits-van der Graaf, Chantal A. A. ;

Kullberg, Bart Jan ;

van der Meer, Jos W. M. ;

Lilic, Desa ;

Veltman, Joris A. ;

Netea, Mihai G. .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (01) :54-61

[10] Two Novel Gain-of-Function Mutations of STAT1 Responsible for Chronic Mucocutaneous Candidiasis Disease: Impaired Production of IL-17A and IL-22, and the Presence of Anti-IL-17F Autoantibody [J].

Yamazaki, Yasuhiro ;

Yamada, Masafumi ;

Kawai, Toshinao ;

Morio, Tomohiro ;

Onodera, Masafumi ;

Ueki, Masahiro ;

Watanabe, Nobuyuki ;

Takada, Hidetoshi ;

Takezaki, Shunichiro ;

Chida, Natsuko ;

Kobayashi, Ichiro ;

Ariga, Tadashi .

JOURNAL OF IMMUNOLOGY, 2014, 193 (10) :4880-4887

← 1 →