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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.