Table 1.
AIHA: auto-immune hemolytic anemia, ITP: immune thrombocytopenia, Ab: antibodies, LKM: liver-kidney-microsome, AI: auto-immune, SLE: systemic lupus erythematous
| Patient | AID mutation | Clinical complications | Associated biological features |
|---|---|---|---|
| P1 | H56Y/H56Y | AIHA, ITP, AI hepatitis | IgM Ab: anti LKM, anti smooth muscle, anti liver membrane, anti cardiolipine, anti platelets and erythrocytes |
| P2 | Y31X/Y31X | ITP | cryoglobulinemia |
| P3 | M139V/M139V | AI hepatitis, arthritis | - |
| P4 | M139V/M139V | arthritis | - |
| P5 | F151S/F151S | arthritis | - |
| P6 | L160P/L160P | arthritis | - |
| P7 | V94A/V94A | cutaneous SLE | Rheumatoid factor, anti smooth muscle |
| P8 | F97C/F97C | multi-organ SLE | IgM Ab: anti nuclear factor, anti DNA Ab |
| P9 | W68X/W68X | Crohn's disease | - |
| P10 | deletion/deletion | destructive polyarthritis | - |
| P11 | W68X/W68X | chronic uveitis | - |
| P12 | W68X/deletion | - | cold agglutinins |
| P13 | Exon4 deletion/Exon4 deletion | ITP | anti cardiolipine |