Table 1.
Summary of published DIRA patients, their disease-causing mutations and outcomes
| Gender (n = 18) |
Age of first symptoms (days) |
Age or disease outcome at time of report |
Country of origin |
Mutation | Reference |
|---|---|---|---|---|---|
| Female | – | Aborted | Turkey | c.355C>T; p.Gln119* | 4 |
| Male | 7 | Deceased | Turkey | c.355C>T; p.Gln119* | 4 |
| Male | 14 | 13 months | Canada | c.156_157del; p.Asn52Lysfs*25 | 2 |
| Male | 0 | Deceased | Netherlands | c.229G>T; p.Gly77* | 2 |
| Female | 14 | 7.2 years | Netherlands | c.229G>T; p.Gly77* | 2 |
| Male | 0 | Deceased | Netherlands | c.229G>T; p.Gly77* | 2 |
| Female | 2 | Deceased | Netherlands | c.229G>T; p.Gly77* | 2 |
| Female | 17 | 2 months | Netherlands | c.229G>T; p.Gly77* | 2 |
| Male | 5 | 1.8 years | Lebanon | c.160C>T; p.Gln54* | 2 |
| Male | 2 | 4 months | Lebanon | c.160C>T; p.Gln54* | 2 |
| Male | 8 | 9.5 years | Puerto Rico | c.−64_1696del; p.IL1F9_IL1RNdel | 2 |
| Male | 10 | 18 months | Puerto Rico | c.−64_1696del; p.IL1F9_IL1RNdel | 3 |
| Male | 14 | 15 years | Puerto Rico | c.−64_1696del; p.IL1F9_IL1RNdel | 5 |
| Male | 60 | 5 months | Puerto Rico | c.−64_1696del; p.IL1F9_IL1RNdel | 6 |
| Female | 0 | 30 months | Brazil | c.213_227delAGATGTGGTACCCAT; p.Asp72_Ile76del | 7 |
| Female | 0 | 27 months | Brazil | c.213_227delAGATGTGGTACCCAT; p.Asp72_Ile76del | 7 |
| Male | 12 | 23 days | USA | c.229G>T; p.Gly77* and c.140delC; p.T47TfsX4 in compound heterozygosity | 8 |
| Female | 12 months | 13 years | Turkey | c.76C>T; p.Arg26* | 10 |
An additional DIRA patient has been included in Infevers database (http://fmf.igh.cnrs.fr/ISSAID/infevers/) as a personal communication from Berdeli A, Sozeri B, Mir S, Atan, M, and Tigli D. This patient has the following variant in Il1RN: c.396delC; p.Thr133Profs
*
118