Whole-exome sequencing showed a pathogenic mutation in STAT1 (c.1154C→T, pT385 M) that confirmed the diagnosis of STAT1 gain-of-function disease. 3,4.

The article, “Novel STAT1 variants in Japanese patients with isolated Mendelian susceptibility to mycobacterial diseases,” was published in the Journal of Clinical Immunology at DOI: 10.1007 ...

MPHs were transfected with Ad-GFP or Ad-IRF8 to modulate IRF8 expression and were treated with GW9662 (10 μM) to inhibit PPARγ, followed by treatment with 0.1 mM palmitic acid (PA) for 24 h.

Usually, the scariest part of childhood vaccination, for both kids and parents, is the needles. In rare cases, however, vaccines can have unexpectedly negative effects, and the secret lies in our ...

Zhou T, Zhu X, Ye Z, et al. Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery. Nat Commun . Published April 6, 2022. doi:10.1038 ...

Hematopoietic stem cell transplantation in patients with Gain of Function STAT1 Mutation. Journal of Allergy and Clinical Immunology , 2017; DOI: 10.1016/j.jaci.2017.03.049 Cite This Page : ...

Non-alcoholic fatty liver disease (NAFLD) is a hepatic metabolic syndrome resulting from lipid metabolic imbalance. Interferon regulatory factor 8 (IRF8) is well known for its roles in immune cell ...

Like STAT1, Siglec-1 levels were reduced in severe COVID-19 patients as compared to those with mild cases. Optimal treatment of COVID-19 patients To date, the optimal treatment of patients with ...

Liu L, Okada S, Kong XF, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 2011;208:1635-1648. Crossref ...

Non-alcoholic fatty liver disease (NAFLD) is a hepatic metabolic syndrome resulting from lipid metabolic imbalance. Interferon regulatory factor 8 (IRF8) is well known for its roles in immune cell ...