Table 3 Summary of the patients who underwent molecular characterisation.
| Patient ID | Mutation | Prolidase activity (%)* | Clinical phenotype | Ethnic origin |
|---|---|---|---|---|
| Previously described patients | ||||
| 1 (WG1298) | IVS4‐1G→C/null allele | ≈8† | Skin ulcers, borderline mental retardation, recurrent infections | USA |
| 2 (WG1625) | IVS6‐2A→G/IVS6‐2A→G | <1‡ | Skin ulcers, mild mental retardation, systemic lupus erythematosus | Canada |
| 3§ | IVS7‐1G→A/IVS7‐1G→A | <9† | Skin ulcers, mental retardation | Italy |
| 4§ | IVS7‐1G→A/IVS7‐1G→A | <9† | Skin ulcers | Italy |
| 5 (WG1077) | 551G→A/833G→A | ≈8† | Asymptomatic at birth, no data available later | Canada |
| 6 | 551C→T/551C→T | None†,‡ | Skin ulcers, mental retardation, recurrent infections, dysmorphic facies, dislocations of joints, partial deafness | Japan |
| 7¶ | 691delTAC/691delTAC | ≈5† | Skin ulcers, abnormal behaviour | Portugal |
| 8¶ | 691delTAC/691delTAC | ≈5† | Skin ulcers, anaemia, increased IgE | Portugal |
| 9 | IVS11‐1G→A/IVS11‐1G→A | <9† | Skin ulcers, mental retardation, dysmorphic facies, telangiectasia, photosensitivity, pigmented skin | Italy |
| 10** | 793C→T/793C→T | <1‡ | Skin ulcers, recurrent infections, dysmorphic facies, hepatomegaly | Ohio |
| 11** | 793C→T/793C→T | <1‡ | Skin ulcers, recurrent infections, dysmorphic facies, hepatomegaly | Ohio |
| 12** | 793C→T/793C→T | <1‡ | Skin ulcers, recurrent infections, dysmorphic facies, hepatomegaly | Ohio |
| 13** | 793C→T/793C→T | <1‡ | Skin ulcers, recurrent infections, dysmorphic facies, hepatomegaly | Ohio |
| 14†† | 826G→A/826G→A | <5† | Moderate skin ulcers, abnormalities of the bone and joints | Middle East |
| 15†† | 826G→A/826G→A | <5† | Moderate skin ulcers, splenomegaly | Middle East |
| 16 (WG1343) | 1342G→A/null allele | <2† | Mild skin ulcers, mild mental retardation, recurrent infections | Canada |
| 17 (WG1194) | 1342G→A/1342G→A | <7† | Skin ulcers, mental retardation, recurrent infections, dysmorphic facies, splenomegaly | UK |
| 18‡‡ | 1342G→A/1342G→A | <10† | Severe skin ulcers, mental retardation, recurrent infections | Italy |
| 19‡‡ | 1342G→A/1342G→A | <10† | Mild skin ulcers | Italy |
| 20§§ | del774bp | None† | Skin ulcers, mental retardation | Japan |
| 21§§ | del774bp | None† | Skin ulcers | Japan |
| 22 (WG1082) | 1354delGAG/null allele | <5† | Mild skin ulcers, borderline mental retardation, chronic liver disease | Australia |
| Patients described in this paper | ||||
| A¶¶ | 1234G→A/1234G→A | None‡ | Skin ulcers, increased IgE | Turkey |
| B¶¶ | 1234G→A/1234G→A | None‡ | Asymptomatic | Turkey |
| C | 826G→A/1342G→A | <2† | Perianal eczema, gross motor delay | Denmark |
| D | 833G→A/1342G→A | <3† | Skin ulcers, recurrent infections, splenomegaly | Denmark |
| E | 611duplAGGCCCACCGTGA/611duplAGGCCCACCGTGA | <10† | Skin ulcers, mental retardation, recurrent infections, splenomegaly, dysmorphic facies | Turkey |
| F | 1342G→A/1342→A | None† | Skin lesions, mild mental retardation, splenomegaly, systemic lupus erythematosus | Italy |
Names of the original cell lines are given in parentheses, where available.
*The prolidase activity is expressed as a percentage with respect to normal values; †prolidase activity measured in fibroblasts; ‡prolidase activity measured in serum; §unrelated; ¶unrelated; **family related; ††unrelated; ‡‡brothers; §§sisters; ¶¶sisters.