Case Report

IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom

Table 2

Lymphocyte subsets before and after the hematopoietic stem cell transplant (HSCT).

CD19+ B cellsCD3+ T cellsCD4+ T cellsCD8+ T cellsCD4+25+127low+ Treg cellsCD3+4+45RA+ naïve T cellsCD316+56+ NK cells

At onset of disease (6 months of age)12%, 1,430 cells/mcL (50–75pc)82%, 9,700 cells/mcL (>95pc)63%, 7,500 cells/mcL (>95pc)17%, 2,000 cells/mcL (90–95pc)8% of CD4+ T cells, 344 cells/mcL (10–90pc)66%5%, 600 cells/mcL (50–75 pc)
3 mo after the first HSCT (13 months of age), 15% donor cells on total chimerism0%61%, 1,150 cells/mcL (<5pc)19%, 360 cells/mcL (<5pc)27%, 530 cells/mcL (10–25pc)ND2%29%, 560 cells/mcL (75pc)
24 mo after the second HSCT (3.5 years of age), 65% of donor cells on total chimerism11%, 250 cells/mcL (<5pc)81%, 1,830 cells/mcL (25pc)47%, 1,000 cells/mcL, (25pc), 78% donor22%, 490 cells/mcL (5–10pc), 97% donor4% of CD4+ T cells, 40 cells/mcL (10–90pc), 91% donor48%3%, 70 cells/mcL (<5pc)