Major reported clinical phenotypes of HA20
| . | Karri et al. 2024 (3) . | Elhani et al. 2024 (4) . | Shiraki et al. 2025 (21) . | Others (21, 23, 24, 25, 26); . | Multicenter cohort (27) . |
|---|---|---|---|---|---|
| Demographics | | | | | |
| # of patients | 199 | 177 | 54 | 12 | 185 |
| # of families | 130 | NR | 37 | 11 | 112 |
| Population | East Asia, Turkey, Europe, and United States | East Asia, Turkey, Europe, and United States | Japan and Vietnam | East Asia and Europe | United States, Asia, Europe, South and Central America, and New Zealand |
| Age of onset, years | Mean 7 (0–39) | Median 4 (0–35) | Median 2.8 (0–27), 60% before age 5 | Mean 4.8 (0–26) N = 10 | Median 3.3 (0.04–33) |
| Female | NR | 62% | 54% | 58.3% | 55.2% |
| Autoinflammation | | | | | |
| Oral ulcers | 68% | 69% | 78% | 75% | 72.2% |
| Genital ulcers | 37% | 36% | 35% | 42% | 32% |
| Rash | 42% | 43% | 50% | 42% | 43.8% |
| Arthritis/arthralgia | 34% | 31% | 37% | 50% | 46.7% |
| Ocular | 8.5% | 8% | 11% | 17% | 6% |
| Gastrointestinal, IBD-like | 39% | 46% | 76% | 58% | 58.6% (27.7% with intestinal ulcers) |
| Vascular disease | 11% | 8% | 4% | 17% | NR |
| Neurologic disease | 11.5% | 10% | 18.5% | 8% | 16.6% |
| Pathergy | 1.5% | NR | NR | NR | NR |
| Recurrent fever | 49% | 54% | 85% | 58% | 63.3% |
| Lung disease | + | 6% | 6% | NR | 20.2% |
| HLH/cytokine storm | + | NR | + | NR | NR |
| Autoimmunity | | | | | |
| Autoantibodies | 72% | NR | NR (all autoimmunity 28%) | 83% | ANA 37.2%, antithyroid antibodies 15.9%, Coombs 25%, and other autoantibodies 35.9% |
| Thyroid | 14% | 14% | 17% | 17% | 17.6% |
| T1DM | 4% | 3% | 2% | 17% | + |
| Liver disease | 14.5% | 10% | 15% | 17% | 28.9% |
| SLE | 7% | 9% | 6% | NR | + |
| Cytopenias | 20% | 6% | 7% | 42% | 56.6% |
| Lymphoproliferation | |||||
| ALPS-like | 1% | NR | NR | NR | NR |
| Lymphoma | 1% | NR | 2% | NR | + |
| Lymphadenopathy | 16% | NR | 15% | NR | 32% |
| Immunodeficiency | |||||
| CVID | 1.5% | All immunodeficiency 5% | NR | NR | + |
| Humoral deficiency | 5.5% | NR | 8% | + | |
| Recurrent infection | 9% | NR | NR | 35.5% | |
| . | Karri et al. 2024 (3) . | Elhani et al. 2024 (4) . | Shiraki et al. 2025 (21) . | Others (21, 23, 24, 25, 26); . | Multicenter cohort (27) . |
|---|---|---|---|---|---|
| Demographics | | | | | |
| # of patients | 199 | 177 | 54 | 12 | 185 |
| # of families | 130 | NR | 37 | 11 | 112 |
| Population | East Asia, Turkey, Europe, and United States | East Asia, Turkey, Europe, and United States | Japan and Vietnam | East Asia and Europe | United States, Asia, Europe, South and Central America, and New Zealand |
| Age of onset, years | Mean 7 (0–39) | Median 4 (0–35) | Median 2.8 (0–27), 60% before age 5 | Mean 4.8 (0–26) N = 10 | Median 3.3 (0.04–33) |
| Female | NR | 62% | 54% | 58.3% | 55.2% |
| Autoinflammation | | | | | |
| Oral ulcers | 68% | 69% | 78% | 75% | 72.2% |
| Genital ulcers | 37% | 36% | 35% | 42% | 32% |
| Rash | 42% | 43% | 50% | 42% | 43.8% |
| Arthritis/arthralgia | 34% | 31% | 37% | 50% | 46.7% |
| Ocular | 8.5% | 8% | 11% | 17% | 6% |
| Gastrointestinal, IBD-like | 39% | 46% | 76% | 58% | 58.6% (27.7% with intestinal ulcers) |
| Vascular disease | 11% | 8% | 4% | 17% | NR |
| Neurologic disease | 11.5% | 10% | 18.5% | 8% | 16.6% |
| Pathergy | 1.5% | NR | NR | NR | NR |
| Recurrent fever | 49% | 54% | 85% | 58% | 63.3% |
| Lung disease | + | 6% | 6% | NR | 20.2% |
| HLH/cytokine storm | + | NR | + | NR | NR |
| Autoimmunity | | | | | |
| Autoantibodies | 72% | NR | NR (all autoimmunity 28%) | 83% | ANA 37.2%, antithyroid antibodies 15.9%, Coombs 25%, and other autoantibodies 35.9% |
| Thyroid | 14% | 14% | 17% | 17% | 17.6% |
| T1DM | 4% | 3% | 2% | 17% | + |
| Liver disease | 14.5% | 10% | 15% | 17% | 28.9% |
| SLE | 7% | 9% | 6% | NR | + |
| Cytopenias | 20% | 6% | 7% | 42% | 56.6% |
| Lymphoproliferation | |||||
| ALPS-like | 1% | NR | NR | NR | NR |
| Lymphoma | 1% | NR | 2% | NR | + |
| Lymphadenopathy | 16% | NR | 15% | NR | 32% |
| Immunodeficiency | |||||
| CVID | 1.5% | All immunodeficiency 5% | NR | NR | + |
| Humoral deficiency | 5.5% | NR | 8% | + | |
| Recurrent infection | 9% | NR | NR | 35.5% | |
NR, not reported; HLH, hemophagocytic lymphohistiocytosis; T1DM, type 1 diabetes mellitus; ALPS, autoimmune lymphoproliferative syndrome; CVID, common variable immunodeficiency; +, reported but frequency not known.