Clinical and demographic data of genetically confirmed and heterozygous patients with DADA2
| Pt./sex | Age at onset/at diagnosis | Disease course | Fever | Skin manifestations | Stroke (number) | Peripheral nervous system involvement | Hypertension | Immunohaemato-logical symptoms | Other symptoms | Biopsy | CECR1 mutations |
| Genetically confirmed patients | |||||||||||
| 1 M | 2 years/14 years | Chronic | Yes | Livedo reticularis Subcutaneous nodules | Yes (2) | Peripheral neuropathy | Yes | HGG | Growth hormone deficiency, arthralgia | Polyarteritis nodosa (skin) | R312X E328D |
| 2 M | 9 months/7 years | Chronic | Yes | Livedo reticularis | Yes (1) | Peripheral neuropathy | Yes | HGG | Small bowel invagination | Polyarteritis nodosa (bowel) | R312X E328D |
| 3 M | 6 months/8 years | Recurrent → chronic | Yes | Livedo reticularis | Yes (2) | Peripheral paresis of the VII cranial nerve Neurosensory hearing loss | Yes | No | Myocarditis | Not done | T360A T360A |
| 4 M | 1 year/10 years | Recurrent → chronic | Yes | Livedo reticularis Subcutaneous nodules Ecchymotic lesions | No | No | No | Recurrent infection of upper airways | Diarrhoea | Polyarteritis nodosa (skin) | G47A P251L |
| 5 F | 3 years/12 years | Chronic | Yes | Livedo reticularis Urticarial rash | No | No | No | No | – | Leucocytoclastic vasculitis (skin) | c.138/144delG T360A |
| 6 M | 5 years/19 years | Chronic | No | Livedo reticularis Necrotic ulcers of extremities | No | No | Yes (with PRES) | No | Small bowel invagination | Polyarteritis nodosa (skin) | L249P T360A |
| 7 M | 8 months/24 years | Recurrent → Chronic | Yes | Livedo reticularis Purpuric lesions | Yes (1) | Peripheral paresis of the III cranial nerve Optic neuritis | Yes | No | Hepatomegaly, splenomegaly | Polyarteritis nodosa (skin) | G47R T360A |
| 8 F | 7 years/7.5 years | Chronic | Yes | Livedo reticularis | No | No | No | Recurrent infections of upper airways | Hepatomegaly | Not done | Y453C Y453C |
| 9 F | 12 months/17 years | Chronic | Yes | Livedo reticularis Erythematous skin rash Necrotic ulcers of extremities | Yes (3) | Peripheral neuropathy | Yes | No | – | Polyarteritis nodosa (skin) | T360A T360A |
| 10 F | 5 years/5 years | Chronic | Yes | Livedo reticularis Necrotic ulcers Subcutaneous nodules | Yes (1) | Peripheral neuropathy | Yes | No | Hepatomegaly, splenomegaly, arthralgia, arthritis | Polyarteritis nodosa (skin) | T360A T360A |
| 11 M | 12 months/12 months | Chronic | Yes | Livedo reticularis | Yes (1) | Neurosensory hearing loss | Yes (with PRES) | No | Generalised adenopathy, diarrhoea, oral aphthosis, arthralgia, arthritis | Not done | L249P P344L |
| 12 M | 5.5 years/6 years | Chronic → Recurrent | Yes | No | No | No | Yes | HGG (IgM) | Hepatomegaly, splenomegaly, arthralgia | Not done | L249P P344L |
| 13 F | 3 months/24 years | Recurrent | Yes | Livedo reticularis | Yes (2) | Peripheral paresis of cranial nerves | No | No | oral aphthosis | Polyarteritis nodosa (skin) | T360A T360A |
| 14 M | 6 years/22 years | Recurrent | No | No | Intracranial haemorrhage | No | No | No | No | Not done | T360A T360A |
| 15 M | 7 years/7 years | Chronic | Yes | Livedo reticularis psoriasis | Yes (1) | Peripheral neuropathy | Yes | HGG | Arthralgia | Leucocytoclastic vasculitis (skin) | Y453C Y453C |
| Heterozygous patients | |||||||||||
| 16 F | 1.5 years/10 years | Chronic | No | Livedo reticularis Subcutaneous nodules | Yes (3) | No | Yes | HGG recurrent infections of upper airways | Diarrhoea, abdominal pain, colic ulcerations | Leucocytoclastic vasculitis (skin), panarteritis nodosa (bowel) | G47V/WT |
| 17 M | 2 years/9 years | Chronic | No | Livedo reticularis Subcutaneous nodules Necrotic ulcers of extremities | No | Peripheral neuropathy | Yes | HGG | Diarrhoea, abdominal pain, arthralgia | – | G47V/WT |
F, female; HGG, hypogammaglobulinaemia; M, male; PRES, posterior reversible encephalopathy syndrome; Pt., patient.