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] |