Clinical and demographic information with laboratory analysis
ID . | Age at Dx, y . | Age at enrollment, y . | AIHA . | ITP . | AIN . | Lymphadenopathy* . | Splenomegaly . | Hepatomegaly . | Therapy† . | DNT, % . | Apoptosis assay‡ . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | 2 | Yes, R | Yes, C | Yes, C | No | No | No | IVIg, steroids | 7.6 | Defective |
| 2 | 11 | 18 | Yes, C | Yes, C | Yes, C | Yes | Yes | Yes | IVIg, steroids, splenectomy | 3.6 | Defective |
| 3 | 15 | 20 | Yes, C | Yes, C | Yes, C | Yes | Yes | No | IVIg, steroids, splenectomy | 5.1 | Defective |
| 5 | 13 | 13 | Yes, R | Yes, R | Yes, R | No | Yes§ | No | IVIg, steroids | 2.7 | Normal |
| 6 | 16 | 16 | No | Yes, R | Yes, R | No | No | No | None | 2.5 | Normal |
| 11 | 3 | 17 | Yes, C | Yes, C | No | No | Yes | Yes | CSA, steroids, splenectomy | 2.0 | Normal |
| 13 | 14 | 19 | Yes, C | Yes, C | Yes, C | No | No | No | IVIg, steroids, CSA | 1.1 | Normal |
| 17 | 4 | 11 | Yes, R | Yes, C | Yes, C | Yes | Yes | No | IVIg, steroids, sulfadoxine (Fansidar) | 10.5 | Defective |
| 18 | 6 | 19 | Yes, R | Yes, R | Yes, R | No | Yes§ | No | IVIg, steroids | 1.1 | Normal |
| 33 | 6 | 7 | Yes, C | Yes, C | Yes, C | Yes | Yes | No | IVIg, steroids | 8.9 | Defective |
| 38 | 10 | 14 | Yes, R | Yes, C | Yes, C | No | Yes | No | IVIg, steroids, rituximab, splenectomy | 7.7 | Defective |
| 39 | 17 | 18 | Yes, R | Yes, R | No | No | No | No | IVIg, steroids | 1.2 | Normal |
ID . | Age at Dx, y . | Age at enrollment, y . | AIHA . | ITP . | AIN . | Lymphadenopathy* . | Splenomegaly . | Hepatomegaly . | Therapy† . | DNT, % . | Apoptosis assay‡ . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | 2 | Yes, R | Yes, C | Yes, C | No | No | No | IVIg, steroids | 7.6 | Defective |
| 2 | 11 | 18 | Yes, C | Yes, C | Yes, C | Yes | Yes | Yes | IVIg, steroids, splenectomy | 3.6 | Defective |
| 3 | 15 | 20 | Yes, C | Yes, C | Yes, C | Yes | Yes | No | IVIg, steroids, splenectomy | 5.1 | Defective |
| 5 | 13 | 13 | Yes, R | Yes, R | Yes, R | No | Yes§ | No | IVIg, steroids | 2.7 | Normal |
| 6 | 16 | 16 | No | Yes, R | Yes, R | No | No | No | None | 2.5 | Normal |
| 11 | 3 | 17 | Yes, C | Yes, C | No | No | Yes | Yes | CSA, steroids, splenectomy | 2.0 | Normal |
| 13 | 14 | 19 | Yes, C | Yes, C | Yes, C | No | No | No | IVIg, steroids, CSA | 1.1 | Normal |
| 17 | 4 | 11 | Yes, R | Yes, C | Yes, C | Yes | Yes | No | IVIg, steroids, sulfadoxine (Fansidar) | 10.5 | Defective |
| 18 | 6 | 19 | Yes, R | Yes, R | Yes, R | No | Yes§ | No | IVIg, steroids | 1.1 | Normal |
| 33 | 6 | 7 | Yes, C | Yes, C | Yes, C | Yes | Yes | No | IVIg, steroids | 8.9 | Defective |
| 38 | 10 | 14 | Yes, R | Yes, C | Yes, C | No | Yes | No | IVIg, steroids, rituximab, splenectomy | 7.7 | Defective |
| 39 | 17 | 18 | Yes, R | Yes, R | No | No | No | No | IVIg, steroids | 1.2 | Normal |
Chronic is defined as having an exacerbation at least 2 times a year, requiring immunosuppressive medications. Rare indicates not chronic.
Dx indicates diagnosis; AIHA, autoimmune hemolytic anemia; ITP, immune-mediated thrombocytopenia; AIN, autoimmune neutropenia; R, rare; C, chronic; IVIg, intravenous immunoglobulin; and CSA, cyclosporin A.
To qualify, patient must have lymphadenopathy not associated with infection or malignancy affecting 2 or more nodal groups
Treatment refers to any medication taken at any time since diagnosis with Evans syndrome. For specific information detailing medications taken at time of ALPS testing see “Discussion”
Defective refers to defective Fas-mediated apoptosis (consistent with diagnosis of ALPS); normal refers to appropriate Fas-mediated apoptosis
Splenomegaly present only during episodes of AIHA