Mutation | Country | Number of patients | Death | Treatment | Reference |
---|---|---|---|---|---|
A | |||||
c.-4153_191del; del IL1RN | India | 1 | 0 | Anakinra | 8 |
c.62C > G; p.Ser21* | Germany | 1 | 0 | Anakinra | 9 |
c.76 C > T; p.(Arg26*) | Turkey | 1 | 0 | Canakinumab | 10 |
c.156_157del; p.(Asn52Lysfs*25) | Canada | 1 | 0 | Anakinra | 8 |
c.160C > T; p.(Gln54*) | Lebanon | 2 | 0 | Anakinra | 8 |
c.229G > T; p.(Glu77*) | Netherlands | 5 | 3 | Anakinra | 8 |
c.355C > T; p (Gln119*) | Turkey | 2 | 2 | Not treated | 8 |
c.396delC; p(Thr133Profs*118) | Turkey | 1 | 0 | Anakinra | 8 |
IL1RN locus deletion | Puerto Rico | 4 | 1 | Anakinra | 8 |
c.229G > T; p.Gly77* and c.140delC | USA | 1 | 0 | Anakinra | 8 |
B | |||||
c.213_227del; p.Asp72_Ile76del | Brazil | 2 | 0 | Anakinra | 8 |
c.211_225del; p.I71_P75del and c.133C > T; p.Q45* | Brazil | 1 | 0 | Anakinra | This patient |