Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

@article{Liu2011GainoffunctionHS,
  title={Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis},
  author={Luyan Liu and Satoshi Okada and Xiao-Fei Kong and Alexandra Y. Kreins and Sophie Cypowyj and Avinash Abhyankar and Julie Toubiana and Yuval Itan and Magali Audry and Patrick Nitschk{\'e} and C{\'e}cile Masson and Be{\'a}ta B. T{\'o}th and J{\'e}r{\^o}me Flatot and M{\'e}lanie Migaud and Maya Chrabieh and Tatiana Kochetkov and Alexandre Bolze and Alessandro Borghesi and Antoine Toulon and Julia Hiller and Stefanie Eyerich and Kilian Eyerich and Vera Gul{\'a}csy and Ludmyla Chernyshova and Viktor Chernyshov and Anastasia Bondarenko and Rosa Mar{\'i}a Cort{\'e}s Grimaldo and Lizbeth Blancas-Galicia and Ileana Maria Madrigal Beas and Joachim Dr Roesler and Klaus Magdorf and Dan Engelhard and Caroline Thumerelle and Pierre-R{\'e}gis Burgel and Miriam Hoernes and Barbara Drexel and Reinhard A. Seger and Theresia Endri Kusuma and Annette Friederike Jansson and Julie Sawalle-Belohradsky and Bernd H. Belohradsky and Emmanuelle Jouanguy and Jacinta Bustamante and M{\'e}lanie Bu{\'e} and Nathan Karin and Gizi Wildbaum and Christine Bodemer and Olivier Lortholary and Alain Fischer and Stéphane Blanche and Saleh Al‐Muhsen and Janine Reichenbach and Masao Kobayashi and Francisco Javier Espinosa Rosales and Carlos Torres Lozano and Sara Sebnem Kilic and Mat{\'i}as M Oleastro and Amos Etzioni and Claudia Traidl‐Hoffmann and Ellen D. Renner and Laurent Abel and Capucine Picard and L{\'a}szl{\'o} Mar{\'o}di and St{\'e}phanie Boisson-Dupuis and Anne Puel and Jean Laurent Casanova},
  journal={The Journal of Experimental Medicine},
  year={2011},
  volume={208},
  pages={1635 - 1648}
}
Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease. 
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STAT1 gain-of-function compromises skin host defense in the context of IFN-γ signaling.
Gain-of-function mutations in STAT1 cause epidermal host defense deficiency in a Th1 context thereby contributing to chronic mucocutaneous candidiasis.
Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.
TLDR
A novel gain of function mutation in STAT1 is identified in a patient with disseminated Apophysomyces trapeziformis infection who had never had mucocutaneous candidiasis or autoimmunity, the first report of a genetic predisposition associated with mucormycosis. Expand
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TLDR
A patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling is described. Expand
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A gain-of-function mutation in STAT2 that leads to a lethal autoinflammatory disease with autosomal recessive inheritance is described that defines a novel form of type I interferonopathy characterized by impaired regulation of the type I IFN response. Expand
Recurrent Stomatitis and Upper Respiratory Tract Infections
TLDR
The patient displayed viral, bacterial, and other fungal infections in addition to chronic mucocutaneous candidiasis, andSTAT1 gain-of-function mutations are the most common known genetic etiology of chronic mucOCutaneousCandiasis. Expand
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
TLDR
The identification and immunological characterization of a group of TYK2-deficient patients is reported and they are described as having at least some of the hallmarks of central giant cell apoptosis. Expand
Title Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT 1 mutations
quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication.
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