Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and mucosal membrane infections caused by Candida albicans. Heterozygous GOF STAT1 mutations have been shown to confer AD CMCD as a result of impaired dephosphorylation of STAT1. We aimed to identify and characte...

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Päätekijät: 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, Stéphanie, Puel, Anne, Casanova, Jean-Laurent, Morio, Tomohiro, Kobayashi, Masao
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Society for Leukocyte Biology 2014
Aiheet:
Translational & Clinical Immunology
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3958742/
https://ncbi.nlm.nih.gov/pubmed/24343863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1189/jlb.0513250
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