Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.

Kosuke NomaMiyuki TsumuraTina NguyenTakaki AsanoFumiaki SakuraMoe TamauraYusuke ImanakaYoko MizoguchiShuhei KarakawaSeiichi HayakawaTakayo ShojiJunichi HosokawaKazushi IzawaYun LingJean-Laurent CasanovaAnne PuelStuart G TangyeCindy S MaOsamu OharaSatoshi Okada

Published in: Journal of clinical immunology (2023)

The clinical and cellular phenotype of the current case of AR IL-17RC deficiency supports a previous report on this rare disorder. Our newly established evaluation system will be useful for the diagnosis of AR IL-17RC deficiency, providing accurate validation of unknown IL17RC variants.

Keyphrases

high resolution
copy number
mass spectrometry
genome wide
smoking cessation