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Radiological imaging. (A) Chest X-Ray that shows a moderate right pleural fluid collection (white arrow) accompanied by a volume loss in the right lung. (B) CT scan: small right lung with a predominantly central/perihilar consolidation with air bronchograms (two white arrows). The left lung is slightly hyperexpanded, with no interstitial changes and small areas of atelectasis (white asterisk). There are small bilateral pleural effusions (white arrow). (C) Marked abnormality of the kidneys with cortical echogenicity (white arrow). (D) Shows a calcified left renal vein thrombosis (white arrow). Free fluid in the peritoneum with some internal strands suggestive of chronicity.
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CSF culture. CT chest showed a hypoplastic right lung and mild right sided pleural effusion ( Figure 1 ).
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Signal transducer and activator of transcription 1 (STAT1) phosphorylation assay. Black line, unstimulated fibroblast. Green line, post stimulation with IFNalpha. (A). Control STAT1 Phosphorylated Tyrosine Measurement. Black line, number of acquired events= 1416. Median fluorescence intensity (MFI)= 2639; Green line, number of acquired events= 1429, MFI= 3146. (B). Patient STAT1 Phosphorylated Tyrosine Measurement. Black line, number of acquired events= 941, MFI= 2766; Green line, number of acquired events= 917, MFI= 6858). As there patient fibroblast grow poorly, the experiment was preformed one time, and as many cells as possible were acquired during the experiment.
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Functional assays in fibroblast cell lines of the patient showed low STAT1 phosphorylation in comparison with healthy control ( Figure 2 ).
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Timeline of the clinical presentation of the patient. BAL, bronchoalveolar lavage. CRP, C-reactive protein. HST, hearing screening test. HFOV, high frequency oscillatory ventilation. NBS, newborn screening. NPA, nasopharyngeal aspiration. NICU, neonatal intensive care unit. NGS, next generation sequencing. SCID, severe combined immunodeficiency. STAT1, signal transducer and activator of transcription. SGPL1, sphingosine 1-phosphate lyase. US, ultrasound. WOB, work of breathing.
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The patient's clinical situation did not improve despite multiple therapeutic interventions and sadly the patient died at 45 days of life ( Figure 3 ).
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