PMC6933644_01
The patient had three ulcers on the mucosa of the upper palate and uvula. The surface of the ulcers is covered with a layer of white plaque (arrow)
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Fig1
The shape of the oral ulcers were irregular, as was the size of the ulcers, and the surface was covered with a layer of white plaque that was not easy to wipe away (Fig. 1).
The protruding masses can be seen around the anus. In addition, a rash can be seen around the anus and inguinal region
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Fig2
However, 31 days after admission, she developed fever, oral ulcers, perianal pyoderma and perianal mass, and moderate anemia (Hb: 72 g/L) (Fig. 2).
The patient carries one heterozygous mutation, c.301 c > T, P. (Arg 101 Trp), in exon 3 of the IL-10RA gene, which is a missense mutation (a, arrow). Her father also carries one heterozygous mutation, c.301 c > T, P. (Arg 101 Trp), in exon 3 of the IL-10RA gene (b, arrow). Her mother has no abnormalities in this coding region of the IL-10RA gene (3-c)
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Fig3
T, P. (Arg 101 Trp) in exon 3 of the IL-10RA gene, which is a missense mutation (Fig. 3a). c.301 c > T, P. (Arg 101 Trp) has been previously reported as a suspicious pathogenicity mutation, which results in the conversion of the 101st amino acid Arg to Trp. The second heterozygous mutation was c. 537G > A, P. (Thr 179 =) in exon 4 of the IL-10RA gene, which is a synonymous mutation (Fig. 4a). c. 537G > A, P. (Thr 179 =) has previously been reported as a pathogenicity mutation, and can affect mRNA splicing.   The results showed that her father carries one heterozygous mutation: c.301 c > T, P. (Arg 101 Trp) in exon 3 of the IL-10RA gene (Fig. 3b).
The patient carries one heterozygous mutation, c. 537G > A, P. (Thr 179 =), in exon 4 of the IL-10RA gene, which is a synonymous mutation (a, arrow). Her father has no abnormalities in this coding region of the IL-10RA gene (b). However, her mother carries one heterozygous mutation, c.537G > A, P. (Thr 179 =), in exon 4 of the IL-10RA gene (c, arrow)
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Fig4
T, P. (Arg 101 Trp) in exon 3 of the IL-10RA gene, which is a missense mutation (Fig. 3a). c.301 c > T, P. (Arg 101 Trp) has been previously reported as a suspicious pathogenicity mutation, which results in the conversion of the 101st amino acid Arg to Trp. The second heterozygous mutation was c. 537G > A, P. (Thr 179 =) in exon 4 of the IL-10RA gene, which is a synonymous mutation (Fig. 4a). c. 537G > A, P. (Thr 179 =) has previously been reported as a pathogenicity mutation, and can affect mRNA splicing.   Furthermore, her mother also carries one heterozygous mutation: c.537G > A, P. (Thr 179 =) in exon 4 of the IL-10RA gene (Fig. 4c).