Table 1.

Clinical and immunologic characteristics of GPS patients investigated for ALPS

	P1	P2	P3	P4	P5	P6
Age at investigation, y	9	3	7	12	15	7
Clinical
Cytopenia (nadir platelet  count per microliter)	Thrombocytopenia (62 000)	Pancytopenia (47 000)	Thrombocytopenia (50 000)	Thrombocytopenia (55 000)	Thrombocytopenia (43 000)	Thrombocytopenia (35 000)
Autoantibodies	Anti-DNA, ANA	Anti-platelet, anti-tPA, ANA, anti-GBM, ANCA	—	—	—	ANA
Bleeding history	Mild gum bleeding	Mild gum bleeding	Mild epistaxis	Severe bleeding after 2 surgeries and after mucocutaneous injury	Severe bleeding after 2 surgeries	Mild bleeding
Splenomegaly	+	+	—	—	+	+
Lymphadenopathy	+ (transient)	—	—	—	—	—
Other symptoms	—	Frequent infections	—	—	—	Chilblain lupus
Age at first symptom	1 y 10 mo	1 y 1 mo	>2 y	1 mo	4 y	2 y 6 mo
Laboratory
IgG g/L*  (normal age range, y)	23.41 (5.04-14.74)	10.46 (4.53-9.16)	16.51 (5.04-14.74)	10.6 (6.98-15.84)	13.74 (6.98-15.84)	18.2 (5.04-14.74)
DNT %† (<2.5%)	2.8 (43/µL)	1.7 (24/µL)	2.4 (28/µL)	1.5 (14/µL)	2.3 (35/µL)	5 (57/µL)
Vitamin B12,*,‡ mg/dL	3 856	>4 000	>4 000	3 758	1 843	>2 000
sFASL,‡ pg/mL (<200)	759	740	797	549	465	630
IL-10, pg/mL (<20)	6.5	<1	4.7	<1	<1	<1
Genetic
NBEAL2 mutation	c.5299C>T p.Gln1767* homozygous	c.5299C>T p.Gln1767* homozygous	c.5299C>T p.Gln1767* homozygous	c.881C>G	c.881C>G	c.4501_4503del p.Leu1501del
				p.Ser294* and c.958C>T p.Arg320Trp	p.Ser294* and c.958C>T p.Arg320Trp
				Both homozygous	Both homozygous

ANA, anti-nuclear antibody; ANCA, anti-neutrophil cytoplasmic antibody; DNT, double-negative T cell; GBM, glomerular basement membrane; IgG, immunoglobulin G; IL, interleukin; tPA, tissue-type plasminogen activator; +, present; —, absent.

^*Age dependent.

^†Absolute numbers in parentheses.

^‡Cutoff values associated with high probability of FAS mutation³: vitamin B₁₂, 1 255 pg/mL; sFASL, 560 pg/mL.