PMC7536453_01
PMC7536453_02
PMC7536453_03
Cerebral and cerebellar atrophy, deepening of the cerebral sulci on cranial computed tomography in case 3
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F1
Cranial computed tomography showed cerebral, cereballar atrophy and deepening of cerebral sulci (Fig. 1).
PMC7536453_04
Appearance of bilateral paramediastinal infection on computed tomography of the thorax suggesting invasive fungal infection in the lung in case 4
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F2
Fungal pneumonia and acute respiratory distress syndrome (ARDS) developed during follow-up (Fig. 2). ARDS, was lost with severe respiratory failure (Table 1). A homozygous p.Arg234Ter stop codon mutation was found in the patient (Fig. 3, Table 2).
Homozygous nonsense mutation in exon 6 (c.700 C>T) (P.Arg234Ter) in the purine nucleoside phosphorylase gene in case 4
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F3
ARDS, was lost with severe respiratory failure (Table 1). A homozygous p.Arg234Ter stop codon mutation was found in the patient (Fig. 3, Table 2).