Clinical and Epidemiologic Features of Nine Patients With ALPS
Patient No. . | Age at Presentation . | Race/Sex . | Presenting Features . | Adenopathy* . | Splenomegaly/Hepatomegaly . | Neutropenia . | Autoimmune Disease . |
---|---|---|---|---|---|---|---|
1 | 4 mo | W/M | Adenopathy | 3+ | +/+ | − | ITP |
Hepatosplenomegaly | |||||||
2 | 18 mo | W/F | Adenopathy | 4+ | +/+ | − | Glomerulonephritis, positive ANA† |
Hepatosplenomegaly | Hemolytic anemia‡ | ||||||
3 | 5 yr | W/M | Adenopathy | 2+ | +/− | + | Hemolytic anemia, ITP |
Splenomegaly | |||||||
4 | 2 yr | W/M | Adenopathy | 3+ | +/+ | + | Urticarial rash |
Hepatosplenomegaly | |||||||
5 | 2 mo | W/M | Splenomegaly | 4+ | +/− | + | Hemolytic anemia, ITP |
6 | 4 mo | B/F | Adenopathy | 4+ | +/+ | − | Hemolytic anemia |
Splenomegaly | |||||||
14 | 9 mo | W/F | Splenomegaly | 4+ | +/+ | − | Hemolytic anemia |
Hemolytic anemia | |||||||
17 | 4 mo | W/F | Adenopathy | 4+ | +/+ | + | Hemolytic anemia |
Hepatosplenomegaly | |||||||
20 | 3 yr | W/F | Adenopathy | 2+ | +/+ | − | Guillain-Barrè syndrome |
Hepatosplenomegaly |
Patient No. . | Age at Presentation . | Race/Sex . | Presenting Features . | Adenopathy* . | Splenomegaly/Hepatomegaly . | Neutropenia . | Autoimmune Disease . |
---|---|---|---|---|---|---|---|
1 | 4 mo | W/M | Adenopathy | 3+ | +/+ | − | ITP |
Hepatosplenomegaly | |||||||
2 | 18 mo | W/F | Adenopathy | 4+ | +/+ | − | Glomerulonephritis, positive ANA† |
Hepatosplenomegaly | Hemolytic anemia‡ | ||||||
3 | 5 yr | W/M | Adenopathy | 2+ | +/− | + | Hemolytic anemia, ITP |
Splenomegaly | |||||||
4 | 2 yr | W/M | Adenopathy | 3+ | +/+ | + | Urticarial rash |
Hepatosplenomegaly | |||||||
5 | 2 mo | W/M | Splenomegaly | 4+ | +/− | + | Hemolytic anemia, ITP |
6 | 4 mo | B/F | Adenopathy | 4+ | +/+ | − | Hemolytic anemia |
Splenomegaly | |||||||
14 | 9 mo | W/F | Splenomegaly | 4+ | +/+ | − | Hemolytic anemia |
Hemolytic anemia | |||||||
17 | 4 mo | W/F | Adenopathy | 4+ | +/+ | + | Hemolytic anemia |
Hepatosplenomegaly | |||||||
20 | 3 yr | W/F | Adenopathy | 2+ | +/+ | − | Guillain-Barrè syndrome |
Hepatosplenomegaly |
Abbreviations: W, white; B, black; ITP, idiopathic thrombocytopenic purpura.
Multiple chains of 1- to 2-cm nodes indicated by 2+, multiple chains of nodes visible without palpation by 3+, and massive adenopathy distorting normal anatomical landmarks by 4+.
Positive immunofluorescent assay for antinuclear antibody, 1:320 nucleolar pattern.
Direct antiglobulin (Coomb's) test was positive for both IgG and C3d in all patients with hemolytic anemia.