Table 1. Clinical and serological... | Rockefeller University Press

Table 1.

Clinical and serological features of family members with a heterozygous AIRE^C337F variant

Patient	Sex/Age	Clinical manifestations	autoAbs
Patient	Sex/Age	Clinical manifestations	IFN-α	IFN-ω	IFN-β	IL-6, IL-17A, IL-17F, IL-22	TNF, GM-CSF	Organ-specific
P1 II:1	M (9 yo)	HP, PA, V, and ED	Pos	Pos	Neg	Neg	Neg	ICA, GAD, and IF
P2 II:2	F (7 yo)	HP, CSU, and ED	Pos	Pos	Neg	Neg	Neg	-
P3 I:1	M (43 yo)	HP and PD	Pos	Pos	Neg	Neg	Neg	GAD

Patient	Sex/Age	Clinical manifestations	autoAbs
Patient	Sex/Age	Clinical manifestations	IFN-α	IFN-ω	IFN-β	IL-6, IL-17A, IL-17F, IL-22	TNF, GM-CSF	Organ-specific
P1 II:1	M (9 yo)	HP, PA, V, and ED	Pos	Pos	Neg	Neg	Neg	ICA, GAD, and IF
P2 II:2	F (7 yo)	HP, CSU, and ED	Pos	Pos	Neg	Neg	Neg	-
P3 I:1	M (43 yo)	HP and PD	Pos	Pos	Neg	Neg	Neg	GAD

yo, years old; HP, hypoparathyroidism; PD, prediabetes; PA, pernicious anemia; V, vitiligo; ED, enamel dysplasia; CSU, chronic spontaneous urticaria; GAD, glutamic acid decarboxylase autoAbs; ICA, islet cell autoAb; IF, intrinsic factor autoAbs.

[ViewLarge]