Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects
- 162 Downloads
Letter to the Editor
The recognition of STAT1 defects as gain (GOF) or loss (LOF) of function in patients suspected of carrying these deficiencies is based on different laboratory tests that allow establishing the functional consequence of a mutation. Particularly in STAT1, monoallelic mutations with GOF, abnormally higher levels of STAT1 phosphorylation after IFNγ or α stimulation, have been described as a distinct feature . In contrast, absence or lower levels of phosphorylation would define a mutation as LOF. STAT1-GOF mutations have been established as the most common genetic cause of chronic mucocutaneous candidiasis (CMC), a condition characterized by impairment of the mucosal immunity against Candida species that has been also associated with reduction of TH17 cells [1, 2]. On the other hand, in monoallelic LOF mutations, susceptibility to mycobacterium diseases is the main clinical characteristic.
KeywordsSTAT1 level gain-of-function flow cytometry
We acknowledge Dr. Lorena Regairaz for her contribution with Patient 3 medical records and Marianela Sanz for her technical assistance.
Compliance with Ethical Standards
Conflict of Interest
The authors declared that they have no conflict of interest.
- 4.Chandrasekaran P, Zimmerman O, Paulson M, Sampaio EP, Freeman AF, Sowerwine KJ, et al. Distinct mutations at the same positions of STAT3 causes either loss or gain of function. J Allergy Clin Immunol. 2016;138(4):1222–1224.e2. https://doi.org/10.1016/j.jaci.2016.05.007.CrossRefPubMedPubMedCentralGoogle Scholar