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Elsevier电子期刊(102)

在“Elsevier电子期刊”中，命中：102条，耗时：小于0.01 秒

在所有数据库中总计命中：147条

1.Prevalence and pattern of dermatological disorders in the pediatric emergency service

作者：Suzan A. AlKhater^a ; ^{Saalkhater@uod.edu.sa} ; Randa Dibo^b ; Bashayer Al-Awam^c

关键词：CMCC ; chronic mucocutaneous candidiasis ; DOCK8 ; dedicator of cytokinesis 8 ; ER ; emergency room ; VZV ; varicella zoster virus

刊名：Journal of Dermatology & Dermatologic Surgery

出版年：2017

2.Altered B cell homeostasis and Toll-like receptor 9-driven response in patients affected by autoimmune polyglandular syndrome Type 1: Altered B cell phenotype and dysregulation of the B cell function in APECED patients

作者：Valentina Perri^a ; Elena Gianchecchi^a ; ¹ ; Riccardo Scarpa^b ; Mariella Valenzise^c ; Maria Manuela Rosado^d ; Ezio Giorda^e ; Antonino Crinò ; ^f ; Marco Cappa^f ; Susi Barollo^b ; Silvia Garelli^b ; Corrado Betterle^b ; Alessandra Fierabracci ; MD PhD^a ; ^{alessandra.fierabracci@opbg.net}

关键词：A ; alopecia ; AD ; Addison&rsquo ; s disease ; AG ; atrophic gastritis ; AIH ; autoimmune hepatitis ; ATD ; autoimmune thyroid disease ; CDI ; central diabetes insipidus ; CDP ; chronic demyelinating polyneuropathy ; CMC ; chronic mucocutaneous candidiasis ; Co ; constipation ; E ; epilepsy ; EH ; enamel hypoplasia ; GCA ; autoimmune chronic gastritis ; HC ; hypercholesterolemia ; HP ; hypoparathyroidism ; ID ; intestinal dysfunction ; K ; keratoconjunctivitis ; MLS ; malabsorption ; ND ; nail dystrophy ; O ; obesity ; OM ; ocular mya

刊名：Immunobiology

出版年：2017

3.Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease

作者：Laura Dotta^a ; ¹ ; ^{lauradotta@icloud.com" class="auth_mail" title="E-mail the corresponding author} ; Omar Scomodon^a ; ¹ ; Rita Padoan^b ; Silviana Timpano^b ; Alessandro Plebani^a ; Annarosa Soresina^a ; Vassilios Lougaris^a ; Daniela Concolino^c ; Angela Nicoletti^c ; Giuliana Giardino^d ; Amelia Licari^e ; Gianluigi Marseglia^e ; Claudio Pignata^d ; Nicola Tamassia^f ; Fabio Facchetti^g ; Donatella Vairo^h ; Raffaele Badolato^a

关键词：GOF ; Gain-of-function ; STAT1 ; Signal transducer and activator of transcription 1 ; CMCD ; Chronic mucocutaneous candidiasis disease ; CCD ; Coiled&ndash ; coiled domain ; DBD ; DNA-binding domain ; LOF ; Loss-of-function ; AR ; Autosomal recessive ; AD ; Autosomal dominant ; CMC ; Chronic mucocutaneous candidiasis ; IPEX ; Immune dysregulation ; polyendocrinopathy ; enteropathy ; X-linked ; WES ; Whole exome sequencing ; IFN ; Interferon ; pSTAT1 ; phosphorylated signal transducer and activator of transcription 1 ; ISRE(s)

刊名：Clinical Immunology

出版年：2016

4.IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation

作者：Florence Fellmann ; MD ; PhD^a ; ^&lowast ; ; Federica Angelini ; MD ; PhD^b ; ^&lowast ; ; Jacqueline Wassenberg ; MD^b ; ^&lowast ; ; Matthieu Perreau ; PhD^c ; Natalia Arenas Ramirez^d ; Gregoire Simon ; MSc^e ; Onur Boyman ; MD^d ; Olivier Demaria ; PhD^f ; Stephanie Christen-Zaech ; MD^f ; Daniel Hohl ; MD^f ; Marco Belfiore ; PhD^a ; Annette von Scheven-Gete ; MD^b ; Michel Gilliet ; MD^f ; Pierre-Yves Bochud ; MD^g ; Yannick Perrin ; MD^b ; Maya Beck Popovic ; MD^h ; Pierre-Alexandre Bart ; MD^c ; Jacques S. Beckmann ; PhD^a ; ⁱ ; Danielle Martinet ; PhD^a ; ^&lowast ; ; Michaë ; l Hofer ; MD^b ; ^&lowast ; ; ^{Michael.Hofer@chuv.ch" class="auth_mail" title="E-mail the corresponding author}

关键词：Adenosine deaminase 2 ; chronic inflammation ; chronic mucocutaneous candidiasis ; CECR1 ; immunodeficiency ; IL17RA ; vasculitis ; whole-genome analyses

刊名：Journal of Allergy and Clinical Immunology

出版年：2016

5.Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T_H17 cell differentiation

作者：Sevgi Keles ; MD^a ; ^b ; Louis Marie Charbonnier ; PhD^a ; Venkataraman Kabaleeswaran ; PhD^c ; Ismail Reisli ; MD^b ; Ferah Genel ; MD^d ; Nesrin Gulez ; MD^d ; Waleed Al-Herz ; MD^e ; Narayanaswamy Ramesh ; PhD^a ; Antonio Perez-Atayde ; MD^f ; Neslihan E. Karaca ; MD^g ; Necil Kutukculer ; MD^g ; Hao Wu ; PhD^a ; ^c ; Raif S. Geha ; MD^a ; Talal A. Chatila ; MD ; MSc^a ; ^{talal.chatila@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Cell division cycle 42 ; dedicator of cytokinesis 8 ; guanine nucleotide exchange factor ; hyper-IgE syndrome ; mucocutaneous candidiasis ; suppressor of cytokine signaling 3 ; signal transducer and activator of transcription 3 ; TH17

刊名：Journal of Allergy and Clinical Immunology

出版年：2016

6.Phenotypic and Genomic Evolution in Candida albicans during Long-term Pathologic Interaction in Patients with Chronic Mucocutaneous Candidiasis

作者：E. Sitterlé ; ¹ ; ² ; ^{emilie.sitterle@pasteur.fr" class="auth_mail" title="E-mail the corresponding author} ; N. Sertour¹ ; ² ; C. Maufrais³ ; C. D&rsquo ; enfert¹ ; ² ; M. Bougnoux¹ ; ² ; ⁴

刊名：Journal de Mycologie Médicale / Journal of Medical Mycology

出版年：2016

7.A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis

作者：Laura Martinez-Martinez^a ; Maria Teresa Martinez-Saavedra^b ; Pablo Fuentes-Prior^c ; Maria Barnadas^d ; Maria Victoria Rubiales^a ; Judith Noda^b ; Isabel Badell^e ; Carlos Rodrí ; guez-Gallego^f ; ^g ; Oscar de la Calle-Martin^a ; ^{odlcalle@santpau.cat" class="auth_mail" title="E-mail the corresponding author}

关键词：CMC ; chronic mucocutaneous candidiasis ; STAT1 ; signal transducer and activator of transcription 1 ; P-STAT1 ; phosphorylated STAT1 ; GOF ; gain-of-function ; CCD ; coiled-coil domain ; DBD ; DNA binding domain ; IL ; interleukin ; IFN ; interferon ; IP-10 ; IFN-gamma-inducible protein 10 ; MIG ; monokine induced by gamma interferon

刊名：Molecular Immunology

出版年：2015

8.Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation

作者：Robin Kobbe^a ; Manuela Kolster^b ; Sebastian Fuchs^c ; Ulf Schulze-Sturm^a ; Jutta Jenderny^d ; Lothar Kochhan^d ; Julia Staab^e ; Eva Tolosa^b ; Bodo Grimbacher^c ; ^f ; ^g ; Thomas Meyer^e ; ¹ ; ^{thomas.meyer@med.uni-goettingen.de" class="auth_mail" title="E-mail the corresponding author}

关键词：CMC ; chronic mucocutaneous candidiasis ; CVID ; common variable immunodeficiency ; FOXP3 ; forkhead-box protein 3 ; GOF ; gain-of-function ; STAT ; signal transducer and activator of transcription

刊名：Gene

出版年：2016

9.Chronic mucocutaneous candidiasis presenting as Candida endophthalmitis

作者：Qianqian Wang^* ; ^{qianqian.wang1@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Simon Fré ; dé ; ric Dufresne^* ; Donald C. Vinh^&dagger ; ; Marie-José ; e Aubin^*

刊名：Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

出版年：2016

10.Sa1776 Chronic Mucocutaneous Candidiasis Due to Gain of Function STAT1 Mutations: High Risk for Squamous Cell Cancer of the Oesophagus

作者：Sara Koo ; Anjan Dhar ; Desa Lilic ; Deepak Kejariwal

刊名：Gastroenterology

出版年：2016

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