Table 2.

Clinical presentation, laboratory and instrumental parameters of the APS patient (altered parameters are in bold). Years = yrs; nr = normal range; nv = normal value; ALT = alanine transaminase; AST = aspartate transferase; GGT = gamma-glutamyl transferase; ALP = alkaline phosphatase; PT = prothrombin time; pos = positive.

Age	Clinical Manifestation/Therapy	Ab	Laboratory and Instrumental Parameters
1.8 yrs	Patent ductus arteriosus Type 1 diabetes mellitus (insulin treatment started) IgA deficit	GADAb, IAA pos IA2Ab neg	IgA 29mg/dL (nr 36–165)
3.5 yrs	Celiac disease (gluten-deprived diet)	EMA, TRGAb neg
5 yrs	Amplatzer device treatment of patent ductus arteriosus
12 yrs	Added metformin treatment
13 yrs	Partial epileptic crisis Preclinical autoimmune thyroiditis	TPOAb pos TGAb neg	Ecography: thyroiditis Normal thyroid function EEG
13.3 yrs	Autoimmune hepatitis Treated with cyclosporine and azathioprine	LKMAb, ASMA pos ANA, ANCA, AMA, ARA, anti-SLA/LP, anti-SP00, anti-gp210, APCA, TRGAb neg	ALT 606 U/L (nv < 33) AST 408 U/L (nv < 32) GGT 119 U/L (nv < 40) ALP, bilirubin, α1-antitrypsin, ceruloplasmin, cupruria, PT nv IgG 20.8 g/L Hepatic agobiopsy: chronic hepatitis Screening AIRE neg Screening C1858T PTPN22 neg
14.8 yrs	Obesity Azathioprine, colecalcipherol, metformin, insulin	Anti-LC1 Ab pos	Macrocytosis due to azathioprine
16.2 yrs		Anti-adrenal Ab, anti-SLA pos ASCA Ab neg	Neutropenia, leukopenia D hypovitaminosis