case_images: PMC9885370_01
case_images: TNFAIP3 (chr6:138197151): NM_006290.3:c.653del:p.Leu218TrpfsTer10 sequencing results; red boxes are detection sites. In the picture, from top to bottom, are the first witness (A), the father of the first witness (B), and the mother of the first witness (C). The genetic test results indicate that the TNFAIP3 gene variant in this pediatric patient is from the father and is a heterozygous mutation.
case_images: fped-10-990008-g001.jpg
case_images: PMC9885370_01_fped-10-990008-g001.jpg
case_images: F1
case_images: TNFAIP3 gene. The downstream truncation variant of this variant is known to be pathogenic. The results are shown in the Figure 1.