Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations

Purpose Heterozygous STAT1 Gain-of-Function (GOF) mutations are the most common cause of chronic mucocutaneous candidiasis (CMC) among Inborn Errors of Immunity. Clinically, these mutations manifest as a broad spectrum of immune dysregulation, including autoimmune diseases, vascular disorders, and m...

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Veröffentlicht in:	Journal of clinical immunology 2024-11, Vol.44 (8), p.184-184, Article 184
Hauptverfasser:	Lei, Wei-Te, Lo, Yu-Fang, Tsumura, Miyuki, Ding, Jing-Ya, Lo, Chia-Chi, Lin, You-Ning, Wang, Chuang-Wei, Liu, Lu-Hang, Shih, Han-Po, Peng, Jhan-Jie, Wu, Tsai-Yi, Chan, Yu-Pei, Kang, Chen-Xuan, Wang, Shang-Yu, Kuo, Chen-Yen, Tu, Kun-Hua, Yeh, Chun-Fu, Hsieh, Ya-Ju, Asano, Takaki, Chung, Wen-Hung, Okada, Satoshi, Ku, Cheng-Lung
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Anergy Autoimmune diseases Autoimmunity Azetidines - therapeutic use Biomedical and Life Sciences Biomedicine Candidiasis Candidiasis, Chronic Mucocutaneous - diagnosis Candidiasis, Chronic Mucocutaneous - genetics Candidiasis, Chronic Mucocutaneous - therapy CD38 antigen CD8 antigen Child Chronic mucocutaneous candidiasis Dendritic cells Dephosphorylation Female Gain of Function Mutation heterozygosity Humans Immunological memory Immunology Immunophenotyping Infectious Diseases Internal Medicine Lymphocytes B Lymphocytes T Male Malignancy Medical Microbiology memory Memory cells Monocytes Mutation Patients Pediatrics Phenotypes Phosphorylation Purines - therapeutic use Pyrazoles - therapeutic use Rosacea Stat1 protein STAT1 Transcription Factor - genetics STAT1 Transcription Factor - metabolism Sulfonamides - therapeutic use Taiwan therapeutics
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