Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RCArticle Published on 2024-01-182024-09-04 Journal: Journal of Clinical Immunology [Category] 대상포진, [키워드] Chronic mucocutaneous candidiasis IL-17 immunity IL-17RC Inborn error of immunity isolated CMC knockout cell line [DOI] 10.1007/s10875-023-01601-9 PMC 바로가기 [Article Type] Article
STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an AdultCase Report Published on 2023-09-292024-09-04 Journal: Internal medicine (Tokyo, Japan) [Category] 대상포진, [키워드] Chronic mucocutaneous candidiasis signal transducer and activator of transcription 1 (STAT1) STAT-1-GOF target exome sequencing [DOI] 10.2169/internalmedicine.2350-23 PMC 바로가기 [Article Type] Case Report
Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1article Published on 2023-05-242024-09-04 Journal: Clinical and experimental immunology [Category] 대상포진, [키워드] Chronic mucocutaneous candidiasis Gain of function inborn errors of immunity loss of function Mendelian susceptibility to mycobacteria Stat1 [DOI] 10.1093/cei/uxac106 PMC 바로가기 [Article Type] article
Human STAT1 gain-of-function heterozygous mutations: chronic mucocutaneous candidiasis and type I interferonopathyArticle Published on 2021-10-262024-09-02 Journal: Journal of Clinical Immunology [Category] 대상포진, [키워드] Chronic mucocutaneous candidiasis gain-of-function Mendelian susceptibility to mycobacterial diseases Stat1 virus [DOI] 10.1007/s10875-020-00847-x PMC 바로가기 [Article Type] Article
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Reviewarticle Published on 2021-03-112024-09-02 Journal: Frontiers in immunology [Category] 대상포진, [키워드] Chronic mucocutaneous candidiasis GoF Hypothyroidism LOF Mendelian susceptibility to mycobacterial diseases signal transducer and activator of transcription 1 [DOI] 10.3389/fimmu.2021.654406 PMC 바로가기 [Article Type] article
Chronic and Invasive Fungal Infections in a Family with CARD9 DeficiencyCARD9 결핍이 있는 가족의 만성 및 침습성 곰팡이 감염journal-article Published on 2016-04-012024-07-29 Journal: Journal of Clinical Immunology [Category] 백선증, [키워드] Autosomal recessive CARD9 deficiency Chronic mucocutaneous candidiasis Cutaneous and deep dermatophytosis. [DOI] 10.1007/s10875-016-0255-8 [Article Type] journal-article
Orf Infection in a Patient with Stat1 Gain-of-FunctionCase Reports Published on 2015-01-012023-06-02 Journal: Journal of Clinical Immunology [Category] 조류인플루엔자, [키워드] Chronic mucocutaneous candidiasis orf infection Primary Immunodeficiency STAT1 gain-of-function [DOI] 10.1007/s10875-014-0111-7 [Article Type] Case Reports