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Case Reports
. 2019 Aug;144(2):611-613.e3.
doi: 10.1016/j.jaci.2019.05.008. Epub 2019 May 15.

A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis

Mohammed F Alosaimi  1 , Michelle C Maciag  2 , Craig D Platt  2 , Raif S Geha  2 , Janet Chou  2 , Lisa M Bartnikas  3
Affiliations
Case Reports

A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis

Mohammed F Alosaimi et al. J Allergy Clin Immunol. 2019 Aug.

Abstract

A novel STAT2 variant causing complete STAT2 protein abrogation presents with hemophagocytic lymphohistiocytosis (HLH). This is the first report of HLH in association with STAT2 deficiency.

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Conflict of interest statement

Conflict of interest: The authors declare no conflicts of interest.

Figures

Figure I
Figure I. The STAT2 homozygous splice donor variant mutation abrogates protein expression.
A. Linear map of STAT2 with the patient’s variant (c.1209+1delG)indicated in red. B. RT-PCR amplification of STAT2 mRNA encompassing the patient mutation site. C. Sanger sequencing of cDNA in the region surrounding the mutation in patient and control. Asterisk indicates mutation location. D. STAT2 protein expression in lysates from BLCLs from patient and control. E. Quantitative PCR analysis of IFIT1, ISG15 and IRF7 mRNA at baseline and after IFN-α stimulation of EBV-transformed BLCLs from the patient and controls (n=3). Values were normalized to GAPDH and expressed relative to the mean of unstimulated controls. Symbols and bars in E represent mean and SEM. ** p<0.01, *** p<0.001. Similar results were obtained in two independent experiments in B, D and E.
See this image and copyright information in PMC

References

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