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25 June 2022
The original version of this paper was updated due to misplaced single text line at the bottom of the figure
References
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Acknowledgements
The authors would like to thank Mary-Claire King PhD, Silvia Casadei PhD, Mary Eckert BS, and Karin Chen MD.
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This work was supported by the Rheumatology Research Foundation and the Arthritis National Research Foundation.
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10875_2022_1292_MOESM1_ESM.pdf
Supplemental Figure 1: Hemizygous deletion of FOXP3 exon 1 in patient SB20 with complex features of IPEX syndrome. A: Schematic of FOXP3, indicating exons (blue boxes, top) at their positions on the X chromosome, and ploidy of reference reads (black bars, below) at sequenced regions of the gene. The red bar indicates deletion of non-coding exon 1. B: Sanger sequence of genomic DNA confirming breakpoints of the 4466 base pair deletion. C: MRI of the pelvis of the patient, indicating lesions (hyper-intense regions at arrow) due to chronic non-bacterial osteomyelitis (CNO) in the right pelvis. In addition to psoriasis, inflammatory bowel disease, and type I diabetes, which are common findings in IPEX syndrome, the patient was also diagnosed with enthesitis-related arthritis, uveitis, and membranous nephritis, which are rare findings in IPEX syndrome, as well as CNO in the right pelvis and ankle. To our knowledge, CNO has not previously been reported in IPEX syndrome. D: Pedigree indicating the patient (arrow), his brother, who is also hemizygous for the deletion and is affected with multi-system autoimmunity; and his unaffected sister, mother, and grandmother, who are heterozygous carriers of the deletion. V = exon 1 deletion variant, N = normal FOXP3 sequence. E: Flow cytometry of freshly isolated peripheral blood mononuclear cells (PBMCs), showing FOXP3 protein expression in CD4+ CD25+ regulatory T cells (blue) compared to non-regulatory CD4+ T cells (red). The patient’s regulatory T cells lack any significant FOXP3 protein expression. (PDF 408 KB)
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Baxter, S.K., Gulsuner, S., Hagin, D. et al. Revisiting Genetic Testing for Patients with Negative Results: IPEX and FOXP3. J Clin Immunol 42, 1164–1167 (2022). https://doi.org/10.1007/s10875-022-01292-8
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DOI: https://doi.org/10.1007/s10875-022-01292-8