Table 3.

Characteristics of patients with TNFAIP3 mutation presenting with HLH/MAS

Number	Author	Gender	Age at onset	HLH features	Other features	TNFAIP3 mutation
1	Li at el	F	6.9 Y	Fever, hyperferritinemia, hypertriglyceridemia, hypofibrinognenemia, increased ALT	Oral ulcers, JIA, ILD	c.C259T, p.R87X
2	Takagi et al	M	7 M	Fever, hepatosplenomegaly, hyperferritinemia, thrombocytopenia, increased ALT	Skin rash, lymphadenopathy	c.1245_1248del (NM_001270507), p.Gln415fs
3	Our patient N. 1	M	4 M	Fever, pancytopenia, splenomegaly, hypertriglyceridemia, hyperferritinemia, hypofibrinognenemia, increased ALT	-	NM_001270507: exon3: c.C386T, p.T129M
4	Our patient N. 2	M	3 M	fever, hepatosplenomegaly, pancytopenia, hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia	-	c. T824C in exon 6, p. L275P

JIA juvenile idiopathic arthritis, ILD interstitial lung disease, ALT alanine aminotransferase, LDH lactate dehydrogenase