Novel STAT1 gain-of-function mutation and suppurative infections
نویسندگان
چکیده
منابع مشابه
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.
Chronic mucocutaneous candidiasis (CMC) is a heterogeneous group of primary immunodeficiency diseases characterized by chronic and recurrent Candida infections of the skin, nails, and oropharynx. Gain-of-function mutations in STAT1 were very recently shown to be responsible for autosomal-dominant or sporadic cases of CMC. The reported mutations have been exclusively localized in the coiled-coil...
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In the past, the transcription factor STAT1 was considered as a tumor suppressor. We have recently discovered that STAT1 in malignant cells favors breast cancer progression as it stimulates immunosuppressive effects mediated by myeloid-derived suppressor cells (MDSCs). Inhibiting STAT1 activity offers a promising therapeutic approach against advanced breast cancer.
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We report a 3-year-old Peruvian girl, born to non-consanguineous parents. At the age of 8 months, she had a severe pneumonia complicated with empyema that required thoracic drainage and mechanical ventilation. Although no microorganisms were isolated, the patient recovered with broad-spectrum antibiotics. Since that date, she has presented multiple episodes of pneumonia and recurrent episodes o...
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BACKGROUND Gain-of-function (GOF) mutations in the human signal transducer and activator of transcription 1 (STAT1) manifest in immunodeficiency and autoimmunity with impaired TH17 cell differentiation and exaggerated responsiveness to type I and II interferons. Allogeneic bone marrow transplantation has been attempted in severely affected patients, but outcomes have been poor. OBJECTIVE We s...
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Interleukin-4 (IL-4) is a cytokine that plays a crucial role in the pathophysiology of asthma and allergic diseases. IL-4-induced gene expression is largely mediated through the activation of the latent transcription factor STAT6. We identified a STAT6 mutant (STAT6VT)) that is activated independently of IL-4 stimulation. STAT6VT carries two amino acid changes in the SH2 domain that affect the ...
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ژورنال
عنوان ژورنال: Pediatric Allergy and Immunology
سال: 2015
ISSN: 0905-6157
DOI: 10.1111/pai.12496