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

2014 ◽  
Vol 134 (5) ◽  
pp. 1209-1213.e6 ◽  
Author(s):  
Glynis Frans ◽  
Leen Moens ◽  
Heidi Schaballie ◽  
Lien Van Eyck ◽  
Heleen Borgers ◽  
...  
Keyword(s):  
Chronic Mucocutaneous Candidiasis ◽  
Signal Transducer ◽  
Gain Of Function ◽  
Enamel Defects ◽  
Mucocutaneous Candidiasis

scholarly journals The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

2015 ◽  
Vol 36 (1) ◽  
pp. 73-84 ◽  
Author(s):  
Mark Depner ◽  
Sebastian Fuchs ◽  
Jan Raabe ◽  
Natalie Frede ◽  
Cristina Glocker ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Chronic Mucocutaneous Candidiasis ◽  
Gain Of Function ◽  
Mucocutaneous Candidiasis

scholarly journals A gain-of-function mutation of STAT1 in a 3-year-old child with chronic mucocutaneous candidiasis and autoimmune hepatitis: a case report

2015 ◽  
Vol 8 ◽  
pp. A83 ◽  
Author(s):  
Thais Carvalho Gave ◽  
Persio Roxo ◽  
Marilia Melo Rocha ◽  
Roberta Kelly Marques Ferreira ◽  
João Bosco Oliveira-Filho ◽  
...  
Keyword(s):  
Case Report ◽  
Autoimmune Hepatitis ◽  
Hepatitis A ◽  
Chronic Mucocutaneous Candidiasis ◽  
Gain Of Function ◽  
Mucocutaneous Candidiasis

Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT 1

Oral Diseases ◽  
2018 ◽  
Vol 25 (3) ◽  
pp. 684-692 ◽  
Author(s):  
Barbara Carey ◽  
Jonathan Lambourne ◽  
Stephen Porter ◽  
Tim Hodgson
Keyword(s):  
Chronic Mucocutaneous Candidiasis ◽  
Gain Of Function ◽  
Mucocutaneous Candidiasis
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