PMC4335412_01
A number of lesions caused by infection. (A) cutaneous abscess behind the right ear; (B) right parietal lobectomy; (C) fungal infection; (D) mouth ulcer.
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PMC4335412_01_12878_2015_20_Fig1_HTML.jpg
Fig1
Physical examination exhibited consciousness, pale skin, cutaneous abscess behind right ear, pustulosis on skin, foot fungus, and mouth ulcer (Figure 1A,C,D). At the 41 months of age, the patient had necrotizing pneumonia due to S. aureus leading right parietal lobectomy (Figure 1B).
Sequencing the genomic PCR products, heterozygous missense mutation (R81P)(G changing to C) was identified.
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PMC4335412_01_12878_2015_20_Fig2_HTML.jpg
Fig2
Direct DNA sequencing analysis demonstrated a heterozygous missense mutation of the 242th base (G to C) in exon 3, resulting change of the 81 codon (Arginine to Proline), which has been reported to cause severe neutropenia (R81P) (Figure 2).