New and Inherited STAT1 Mutations in a Chinese Family with Chronic Mucocutaneous Candidiasis: A Case Report
-
Xiaoheng XU
,
Wenxia MENG
,
Lu FENG
,
Wei GUO
Abstract
A mild clinical Chronic Mucocutaneous Candidiasis (CMC) phenotype with STAT1 transcription factor mutation has been identified in a Chinese family. It is a rare variant in STAT1 (NM_0073315.3c.1175T>C Met392Thr). Specifically, it is a heterozygous mutation. To date, the pathogenicity of this variant in STAT1 (NM_0073315.3c.1175T>C Met392Thr) for CMC has not been reported in the Human Gene Mutation Database. Thus, this is the first report about STAT1 mutation found in CMC patients from Chinese ethnic group. This study also shows the mutation on the DNA-binding domain of STAT1 for the first time. The findings will broaden the spectrum of STAT1 mutations and facilitate genetic diagnosis by the oral medicine specialists.
1. Puel A, Picard C, Cypowyj S, et al (2010). Inborn errors of mucocutaneous immun-ity to Candida albicans in humans: a role for IL-17 cytokines? Curr Opin Immunol, 22:467-474.
2. Puel A, Cypowyj S, Bustamante J, et al (2011). Chronic Mucocutaneous Candidi-asis in humans with inborn errors of in-terleukin-17 immunity. Science, 332:65-68.
3. Liu L, Okada S, Kong XF, et al (2011). Gain-of-function human STAT1 muta-tions impair IL-17 immunity and underlie Chronic Mucocutaneous Candidiasis. J Exp Med, 208:1635–1648.
4. Koch D, Lilic D, Carmichael AJ (2009). Au-tosomal dominant Chronic Mucocutane-ous Candidiasis and primary hypothy-roidism complicated by oesophageal car-cinoma. Clin Exp Dermatol, 34:e818–820.
5. McGurk M, Holmes M (1998). Chronic mu-co-cutaneous candidiasis and oral neo-plasia. J Laryngol Otol, 102:643–645.
6. van de Veerdonk FL, Plantinga TS, Hoischen A, et al (2011). STAT1 muta-tions in autosomal dominant Chronic Mucocutaneous Candidiasis, N EngI J Med, 365:54-61.
7. Richards S, Aziz N, Bale S, et al (2015). Standards and guidelines for the interpre-tation of sequence variants: a joint con-sensus recommendation of the American College of Medical Genetics and Ge-nomics and the Association for Molecu-lar Pathology. Genet Med, 17:405-24.
8. Dotta L, Scomodon O, Padoan R, et al (2016). Clinical heterogeneity of dominant Chronic Mucocutaneous Candidiasis dis-ease: presenting as treatment-resistant candidiasis and chronic lung disease. Clin Immunol, 164:1-9.
9. van de Veerdonk, FL, Netea MG (2016). Treatment options for Chronic Mucocu-taneous Candidiasis. J Infect, 72:S56-S60.
10. Jana P, Julia S, Oliver B, et al (2019). Iden-tification of a distinct subset of disease-associated gain-of-function missense mu-tations in the STAT1 coiled-coil domain as system mutants. Mol Immunol, 114:30-40.
11. Tariq Al, Kimberly G, Florian G et al (2019). Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib. J Clin Immunol, 39(8):776-785.
12. Glenn TC, Nilsen RA, Kieran TJ, et al (2019). Adapterama I: universal stubs and primers for 384 unique dual-indexed or 147,456 combinatorially-indexed Illumina libraries (iTru & iNext). Peer J, 7: e7755.
2. Puel A, Cypowyj S, Bustamante J, et al (2011). Chronic Mucocutaneous Candidi-asis in humans with inborn errors of in-terleukin-17 immunity. Science, 332:65-68.
3. Liu L, Okada S, Kong XF, et al (2011). Gain-of-function human STAT1 muta-tions impair IL-17 immunity and underlie Chronic Mucocutaneous Candidiasis. J Exp Med, 208:1635–1648.
4. Koch D, Lilic D, Carmichael AJ (2009). Au-tosomal dominant Chronic Mucocutane-ous Candidiasis and primary hypothy-roidism complicated by oesophageal car-cinoma. Clin Exp Dermatol, 34:e818–820.
5. McGurk M, Holmes M (1998). Chronic mu-co-cutaneous candidiasis and oral neo-plasia. J Laryngol Otol, 102:643–645.
6. van de Veerdonk FL, Plantinga TS, Hoischen A, et al (2011). STAT1 muta-tions in autosomal dominant Chronic Mucocutaneous Candidiasis, N EngI J Med, 365:54-61.
7. Richards S, Aziz N, Bale S, et al (2015). Standards and guidelines for the interpre-tation of sequence variants: a joint con-sensus recommendation of the American College of Medical Genetics and Ge-nomics and the Association for Molecu-lar Pathology. Genet Med, 17:405-24.
8. Dotta L, Scomodon O, Padoan R, et al (2016). Clinical heterogeneity of dominant Chronic Mucocutaneous Candidiasis dis-ease: presenting as treatment-resistant candidiasis and chronic lung disease. Clin Immunol, 164:1-9.
9. van de Veerdonk, FL, Netea MG (2016). Treatment options for Chronic Mucocu-taneous Candidiasis. J Infect, 72:S56-S60.
10. Jana P, Julia S, Oliver B, et al (2019). Iden-tification of a distinct subset of disease-associated gain-of-function missense mu-tations in the STAT1 coiled-coil domain as system mutants. Mol Immunol, 114:30-40.
11. Tariq Al, Kimberly G, Florian G et al (2019). Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib. J Clin Immunol, 39(8):776-785.
12. Glenn TC, Nilsen RA, Kieran TJ, et al (2019). Adapterama I: universal stubs and primers for 384 unique dual-indexed or 147,456 combinatorially-indexed Illumina libraries (iTru & iNext). Peer J, 7: e7755.
| Files | ||
| Issue | Vol 49 No 6 (2020) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijph.v49i6.3369 | |
| Keywords | ||
| Chronic Mucocutaneous Candidiasis (CMC); STAT1 transcription factor; Mutation; China | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
XU X, MENG W, FENG L, GUO W. New and Inherited STAT1 Mutations in a Chinese Family with Chronic Mucocutaneous Candidiasis: A Case Report. Iran J Public Health. 2020;49(6):1164-1168.
