Table 1.

Characteristics of patients and results of ADA2 activity (expressed in mU/mL).

Patients	Age	Gender	Genotype	Phenotype	ADA2 activity (mU/mL)
Patient 1	22	M	R312X/E328D	vasculitis, livedo reticularis, ipogammaglobulinemia	0.00
Patient 2	30	M	G47R T360A	Fever, livedo reticularis, purpuric lesions, hypertension, stroke, peripheral neurophathy, splenomegaly	0.00
Patient 3	19	M	G47A/L251P	Livedo reticularis recurrent infections	0.05
Patient 4	19	M	L249P/P344L	Livedo reticularis, hypertension, stroke, arthralgia, arthritis	0.05
Patient 5	13	F	Duplication	Hypertension, myocarditis, stroke	0.05
Patient 6	15	M	T360A/T360A	Fever, livedo reticularis, hypertension, stroke, myocarditis	0.00
Patient 7	27	F	S479P/G47V	Livedo reticularis, hypogammaglobulinemia	0.05
Patient 8	25	M	S479P/G47V	Livedo reticularis, hypogammaglobulinemia	0.00
Patient 9	13	M	L188P/G383D	lymphoproliferation, hypogammaglobulinemia	0.04
Patient 10	14	M	R312X/E328D	Livedo reticularis, Stroke, Hypogammaglobulinemia	0.00
Patient 11	20	F	G47R/G47R	PAN, Stroke	0.00
Patient 12	20	F	L180P/T360A	Livedo reticularis, Inflammation, stroke	0.00
Patient 13	15	M	L188P/G383D	lymphoproliferation, hypogammaglobulinemia	0.00
Patient 14	54	M	Y220C omozygous	Polyarteritis nodosa	0.00
Patient 15	10	F	Y453C	Anemia, Livedo reticularis	0.06
Patient 16	36	F	L188P/T187P	Mild Leukopenia, Arthralgia	0.03
Patient 17	31	F	L188P/T187P	PRCA, hypogammaglobulinemia	0.00
Patient 18	26	M	L249P T360A	Systemic hypertension and PRES encephalopathy, livedo Reticularis	0.00