case_images: PMC7536453_01
case_images: PMC7536453_02
case_images: PMC7536453_03
case_images: Cerebral and cerebellar atrophy, deepening of the cerebral sulci on cranial computed tomography in case 3
case_images: TPA-55-320-g001.jpg
case_images: PMC7536453_03_TPA-55-320-g001.jpg
case_images: F1
case_images: Cranial computed tomography showed cerebral, cereballar atrophy and deepening of cerebral sulci (Fig. 1).
case_images: PMC7536453_04
case_images: Appearance of bilateral paramediastinal infection on computed tomography of the thorax suggesting invasive fungal infection in the lung in case 4
case_images: TPA-55-320-g002.jpg
case_images: PMC7536453_04_TPA-55-320-g002.jpg
case_images: F2
case_images: 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).
case_images: Homozygous nonsense mutation in exon 6 (c.700 C>T) (P.Arg234Ter) in the purine nucleoside phosphorylase gene in case 4
case_images: TPA-55-320-g003.jpg
case_images: PMC7536453_04_TPA-55-320-g003.jpg
case_images: F3
case_images: 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).