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Table 1 Patient characteristics of 13 pediatric DITRA patients treated with biological agents

From: Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents

Case

Age at onset/genetically confirmed diagnosis in months

sex

Mutation c (p) nomenclature

Zygosity

Previous treatment failures

with nonbiological agents

Author

1

72/96

M

c.115 + 6 T > C

(p.Arg10Argfs*)

ho

CSA, MPP, ACI

[28]

2

“infancy”/“adolescence”

M

c.115 + 6 T > C

(p.Arg10Argfs*)

ho

ACI, CSA, PUVA, PRED, MTX, APRE

[8]

3

1/72

M

c.115 + 6 T > C

(p.Arg10Argfs*)

ho

CS, MTX, ACI,CSA

[15]

4

0.5/6

M

c.80 T > C

(p.Leu27Pro)

ho

[31]

5

2/36

M

c.80 T > C

(p.Leu27Pro)

ho

Topical CS, systemic RET

[5]

6

41/48

M

c.80 T > C

(p.Leu27Pro)

ho

CS, MTX

[19]

7

2/17

F

c.80 T > C

(p.Leu27Pro)

ho

CSA, ACI

[10]

8

1/2

M

c. 80 T > C

(p.Leu27Pro)

ho

Topical CS, ACI

[6]

9

1/60

F

c. 80 T > C

(p.Leu27Pro)

ho

CS, ACI, CSA

[3]

10

NA/"adolescence"

M

c.368C > T

(p.Thr123Met)

ho

MTX, ACI

[24]

11

84/NA

F

c.142C > T/c.338C > T

(pArg48Trp)/p.Ser113Leu)

comp het

PRED, ACI, ISO, MTX, CSA

[26]

12

7/60

M

c.227C > T/c.338C > T

(p.Pro76Leu)/(pSer113Leu)

comp het

MTX, CS

Patient reported here

13

36/48

M

c.227C > T/c.338C > T

(p.Pro76Leu/p.Ser113Leu)

comp het

CS, CSA, THAL, DAP

[3]

  1. Abbr.:ACI-acitretin, APRE-apremilast, CS-corticosteroids, CSA-ciclosporine, DAP-dapsone, ho-homozygosity, het-heterozygosity, comp het-compound heterzygosity, ISO-isotretinoin MPP-methylprednisolone, MTX-methotrexate, NA-not available, PRED-prednisolone, PUVA-psoralen plus UVA, RET-retionoids, THAL-thalidomide.