PMC10067556_01
Clinical, genetic and laboratory findings in a patient with STAT1 GOF. (A) Patient pedigree. c.963A>T was demonstrated using Sanger sequencing (data not shown), (B) Clinical pictures of onychomycosis (left) and impact of CMC on the tongue (right), (C) p-STAT1 MFI of patient and age-matched controls (n=13) on CD14+ monocytes unstimulated and after IFNalpha (2000 IU/ml) and IFNgamma (2000 IU/ml) stimulation for 15 minutes (left); representative histogram of p-STAT1 on CD14+ monocytes in patient and healthy control (right) after IFN-gamma stimulation (15 min). MFI: mean fluorescence index.
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We report a case of a 55-year-old man with a de novo congenital STAT1 gain-of-function mutation (c963A>T, p.R321S), as previously reported and validated ( Figure 1A ). The patient presented with chronic mucocutaneous candidiasis (CMC) ( Figure 1B ), complicated by esophageal stenosis, respiratory infections, and bronchiectasis. Genetic and molecular diagnosis ( Figure 1C ) of STAT1 GOF was established at an age of 48 years.
Electrocardiographic and radiological findings in a patient with STAT1 GOF and myocarditis. (A) ECG, showing bi-atrial enlargement (black arrow, biphasic P wave in V1 and enlarged P wave in II), extreme rightward QRS axis deviation and biphasic T waves in V5-6 (grey arrow). (B) Cardiac native T1 map, T2 map and late gadolinium enhancement (LGE) MR images pre- and post-baricitinib. LV, left ventricle; RV, right ventricle. Blue arrow in LGE showing diffuse enhanced subepicardial and myocardial enhancement compatible with active myocarditis, partial regression after 8 months of treatment, with further reduction at 15 months after a dose increase.
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Cardiac MRI confirmed these findings, with increased native T1 and T2 values and enhancement of the subepicardial myocardium in the middle and apical zone of the left ventricle on late gadolinium enhancement (LGE), suggesting diffuse myocarditis ( Figure 2B ). After 3 and 8 months of treatment, partial regression of myocarditis was noted on MRI ( Figure 2B ).