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activator of transcription 1(STAT1; 600555) gene have been shown to cause autosomal dominant CMC (AD-CMC). However, other genetic mutations also contribute to the etiology of CMC. For example, autosomal recessive mutations in the autoimmune regulator gene induce autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and STAT3 gene mutations cause hyper immunoglobulin E (IgE) syndrome; furthermore, autosomal recessive mutations in CARD9, heterozygous mutations in IL17F, and homozygous mutations in IL17RA or IL17RC genes First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus

daehan uihak yujeon hakoeji/journal of genetic medicine

First Korean case of a <i>STAT1</i> gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus