PMC6930882_01
(A) Whole-exome Sanger sequencing mutually identified an A deletion that caused N to be substituted by K at the 71st amino acid; this interrupted the last two amino acids of the immunoreceptor signaling ITAM domain and truncated at the following 39 location in the CD3G gene. (B) Following CD4+ gating for surface CD3-TCR complex expression, CD3epsilon chain expression decreased by one-log fluorescence intensity, and the gamma chain of the CD3 complex was almost undetectable. There was an obvious decrease in TCRalphabeta in the patient with a CD3gammaDel
213A mutation. Similar results were obtained following CD8 gating (data not shown). The units of the y-axis are cell counts between 0 and 200. (C) 5 x 105 PBMCs per well were cultured with 5 mg/mL phytohemagglutinin (PHA) or 100 ng/mL anti-CD3, either alone or in combination with 100 ng/mL anti-CD28, for 4 days. The lymphocyte proliferation staining with the activation marker for CD25 in flow cytometry was similar between the patient and the healthy control.
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F1
He experienced recurrent sinopulmonary infections that were complicated by mastoiditis, pleural effusion, and bronchiectasis (Supplemental Figure 1A) and required hospitalization from the age of 14-years. Preseptal staphylococcus aureus cellulitis and E. coli epididymo-orchitis occurred when he was 27-years-old, and an engorged portal vein, splenomegaly, splenic artery, and coarse liver surface gradually developed (Supplemental Figures 1B-D). Using a WES approach (Supplemental Table 1), a 1 base pair deletion was identified at position 71 in the coding sequence (c.213 del A), which led to a frameshift at position 71 and a premature stop codon at position 110 (Figure 1A).