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Table 1 Summary of DIRA patients already diagnosed, world demographic distribution, mutations and outcomes. On B, specific mutations found in Brazilian DIRA patients

From: A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

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