Clinical and Laboratory Findings
Table I. Clinical and Laboratory Findings in Index Cases with ALPS
- Accumulation of lymphoid cells 100% (62/62)
- Lymphadenopathy 87% (54/62)
- Splenomegaly 90% (56/62)
- Hepatomegaly 45% (28/62)
- Splenectomy 32% (20/62)
- Lymphoma 3% (2/62)
- Age at presentation 1.8± 1.8 years (mean± SD of 54 cases)
- Autoimmune disease
- Hemolytic anemia 53% (33/62)
- Idiopathic thrombocytopenic purpura 44% (27/62)
- Neutropenia 31% (19/62)
- Urticaria 13% (8/62)
- Glomerulonephritis 8% (5/62)
- Guillain-Barré syndrome 5% (3/62)
- Autoimmune hepatitis 6% (4/62)
- Uveitis, iridocyclitis 5% (3/62)
- Other common clinical manifestations
- Skin rash, nearly all patients
- Arthritis
- Vasculitis
- Rare manifestations
- Hydrops fetalis, 2 homozygous Fas mutant patients
- Chronic pulmonary infiltrates 2
- Aplastic anemia 1
- Multiple neoplastic lesions 1
- Hepatocellular carcinoma 1
- Oral ulcerations 1
- Premature ovarian failure 1
- Recurrent headaches, seizure, loss of consciousness 1
- Laboratory findings
- Elevated DNTs 100% (44/44)
- Defective lymphocyte apoptosis 98% (49/50)
- Fas mutation 87% (62/71)
- Caspase 10 mutation 6% (2/35, NIH cohort only)
- Hyper IgG, A, or M, common
- Elevated plasma IL-10 in most patients
- Lymphopenia 2
- Lymphocytosis 1
- Pancytopenia 1
- Reticulocytosis 1
- Autoantibodies (NIH cohort)
- Coombs positive 73% (19/26)
- Anticardiolipin 46% (12/26)
- Antinuclear antibodies 15% (4/26)
- Rheumatoid factor 12% (3/26)