PMC6370736_01
PMC6370736_02
PMC6370736_03
T regulatory cells (Tregs) assessed as CD4+CD25highCD127lowFOXP3+. (A) CD4+ T cells gated by CD4 and side scatter (SS). (B) Treg CD4+CD25high. (C) Treg CD4+CD25+CD127 low. (D) Treg CD4+CD25+FOXP3+. The percentage (1.1%) and absolute number (20 cells/mmL) of Treg was reduced compared to reference age values (4-8% and 63-690 cells/mmL respectively).
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F1
Treg cells (CD4+CD25+CD127lowFOXP3+) at 1% of total CD4+ cells (age reference values 4-8%) and an absolute number of 20 cells/mmL (age reference values 63-690 cells/mmL), (b) elevated percentages of memory T helper cells (CD4+CD45RO+) at 52.7% and memory T cytotoxic cells (CD8+CD45RO+) at 39.4% compared to age reference values (7-20 and 2-15%, respectively), and (c) decreased naive T helper cells (CD4+CD45RA+) at 47.3% and naive T cytotoxic cells (CD8+CD45RA+) at 60.6% compared to age reference values (64-93 and 70-93%, respectively) (Figures 1, 2). Immunophenotyping was otherwise normal. Tests for antinuclear, antiislet cell, antiendomysial, antithyroid peroxidase, anti-thyroglobulin, antiglutamic acid decarboxylase, antitissue-transglutaminase, and antienterocyte antibodies were negative, while the antireticulin antibodies were positive (1/160).
Flow cytometric assessment of memory T helper and memory T cytotoxic cells. (A) T cells were gated by CD3 and side scatter (SS). (B) T helper memory cells: CD3+CD4+CD45RO+. (C) T cytotoxic memory cells: CD3+CD8+CD45RO+.The percentage of memory T helper (52.7%) and memory T cytotoxic cells (39.4%) were elevated compared to reference age values (7-20 and 2-15% respectively).
fped-07-00020-g0002.jpg
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F2
Treg cells (CD4+CD25+CD127lowFOXP3+) at 1% of total CD4+ cells (age reference values 4-8%) and an absolute number of 20 cells/mmL (age reference values 63-690 cells/mmL), (b) elevated percentages of memory T helper cells (CD4+CD45RO+) at 52.7% and memory T cytotoxic cells (CD8+CD45RO+) at 39.4% compared to age reference values (7-20 and 2-15%, respectively), and (c) decreased naive T helper cells (CD4+CD45RA+) at 47.3% and naive T cytotoxic cells (CD8+CD45RA+) at 60.6% compared to age reference values (64-93 and 70-93%, respectively) (Figures 1, 2). Immunophenotyping was otherwise normal. Tests for antinuclear, antiislet cell, antiendomysial, antithyroid peroxidase, anti-thyroglobulin, antiglutamic acid decarboxylase, antitissue-transglutaminase, and antienterocyte antibodies were negative, while the antireticulin antibodies were positive (1/160).
PMC6370736_04
Confirmatory Sanger Sequencing of the FOXP3 c.1015C>T (p.Pro339Ser) mutation from the patient in relation to the reference sequence NM_014009.3 (RefSeq).
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F3
The sequence analysis of FOXP3 gene revealed that the patient was hemizygous for the exon 10, c.1015C>T (p.Pro339Ser) mutation (Figure 3), which is regarded as pathogenic although it has not been described previously in the literature.
PMC6370736_05