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 |