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

Table 3

Male patients reported with IPEX syndrome with a mutation in FOXP3 gene c.1190G > A (p. R397Q).

Case	Age at onset of disease	Organ involvement			Others	Reference #
		Enteropathy	Endocrinopathy	Dermatitis
1	4 years	+	Type 1 diabetes	+	−	18
2	1 month	+	−	+	−	19
3	6 years	+	−	−	Failure to thrive, recurrent infections (Clostridium difficile, Candida albicans, and Mycoplasma pneumoniae)	20
Our patient	2 months	+	−	−	Failure to thrive