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. 2023 Apr 25;212(2):166-169.
doi: 10.1093/cei/uxad008.

Practical challenges for functional validation of STAT1 gain of function genetic variants

Adriana S Albuquerque  1 , Jesmeen Maimaris  1   2 , Alexander J McKenna  1 , Jonathan Lambourne  3 , Fernando Moreira  2 , Sarita Workman  2 , Karyn Megy  4 , Ilenia Simeoni  4 , Hana Lango Allen  4   5 ; NIHR BioResource-Rare Disease Consortium; Emma C Morris  1   2 , Siobhan O Burns  1   2
Collaborators, Affiliations

Practical challenges for functional validation of STAT1 gain of function genetic variants

Adriana S Albuquerque et al. Clin Exp Immunol. .
No abstract available

Keywords: STAT1; chronic mucocutaneous candidiasis; flow cytometry; gain of function; primary immunodeficiency; variants of unknown significance.

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Conflict of interest statement

S.O.B. has received grant support from CSL Behring and personal fees or travel expenses from Immunodeficiency Canada/IAACI, CSL Behring, Baxalta US Inc. and Biotest. E.C.M. has received honoraria from GlaxoSmithKline, AstraZenica, and Orchard Therapeutics. The rest of the authors declare that they have no conflicts of interest.

Figures

Figure 1.
Figure 1.
STAT1 phosphorylation and Th17 cells. Levels of expression of pSTAT1 (a–d) or total STAT1 (e) on gated CD3+ T cells after stimulation with IFN-α. (f) Frequency of IL-17+ cells within CD4+ lymphocytes. Fold change was calculated as the MFI ratio between IFN-α-stimulated and non-stimulated cells. Each dot or number represents one individual. For (b and c), the mean of the HC group is shown as a dotted line and the standard deviation of the HC group as grey shading.
See this image and copyright information in PMC

References

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