PMC8236627_01
Some clinical features of DOCK8 deficiency. Plain warts and discolored skin patches in forehead, trunk, hands, and soles. Severe retroauricular and axillar eczema. Lower right corner: chest radiograph showing bilateral bronchiectases and perihilar interstitial infiltrates.
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F1
Later, the patient also developed one episode of bronchiolitis, three of pneumonia, and three of otitis media with effusion, as well as twice-a-month intermittent diarrhea, disseminated flat warts, chronic mucocutaneous candidiasis, and condyloma acuminatum around the scrotum and groin folds (see Figure 1).
Equivocal carboxyfluorescein succinimidyl ester lymphoproliferation assay: impaired in both the patient's and the "travel control" blood samples.
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F2
The mitogen-induced carboxyfluorescein (CFSE) lymphoproliferation assay was equivocal: both the patient and a healthy (travel) control showed a limited response (see Figure 2).
DOCK8 expression by flow cytometry. (A) Histograms showing mean fluorescence intensity: isotype control (red) and DOCK8 expression (blue) in the patient (above) and the healthy control (below). (B) Dot plot showing DOCK8 expression in CD3+ cells in the patient (above) and the control (below). (C) Histogram comparing DOCK8 expression in the healthy control (orange) and the patient (blue).
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F3
Flow cytometry expression for WASp was slightly reduced in peripheral blood mononuclear cells, whereas DOCK8 expression was null (see Figure 3).
Whole-exome sequencing visualization on Integrative Genomics Viewer (IGV) and UCSC Genome browser, showing a large homozygous deletion of DOCK8 spanning introns 14 through 26, more than 50 kb.
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F4
Through whole exome sequencing (WES), we identified a large homozygous deletion that spans from introns 14 to 26, ~60,000 base pairs (Figure 4).