Case Reports in Immunology

Case Report

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

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


	CD19⁺ B cells	CD3⁺ T cells	CD4⁺ T cells	CD8⁺ T cells	CD4⁺25⁺127^low+ Treg cells	CD3⁺4⁺45RA⁺ naïve T cells	CD3⁻16⁺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 chimerism	0%	61%, 1,150 cells/mcL (<5pc)	19%, 360 cells/mcL (<5pc)	27%, 530 cells/mcL (10–25pc)	ND	2%	29%, 560 cells/mcL (75pc)
24 mo after the second HSCT (3.5 years of age), 65% of donor cells on total chimerism	11%, 250 cells/mcL (<5pc)	81%, 1,830 cells/mcL (25pc)	47%, 1,000 cells/mcL, (25pc), 78% donor	22%, 490 cells/mcL (5–10pc), 97% donor	4% of CD4⁺ T cells, 40 cells/mcL (10–90pc), 91% donor	48%	3%, 70 cells/mcL (<5pc)