Characteristics of the four patients with a genetic diagnosis of hyperimmunoglobulinaemia D syndrome
| Patients | Ethnic background | Sex | Age at onset (years) | Episode duration (days) | Episode frequency(per month) | Fever | Abd | Art | Tho | Cut | ADP | Aphtosis | Post-vaccinal reactivity | Other signs | IgD (UI/L) | MVK genotypes |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Abd, abdominal signs; ADP, cervical adenopathies; Art, articular signs; Cut, cutaneous signs; F, female; M, male; MVK, mevalonate kinase; ND, not determined; Tho, thoracic signs; +, presence of symptoms; −, absence of symptoms. | ||||||||||||||||
| 1 | French | M | 5 | 3 | <1 | + | + | + | + | – | – | – | – | – | >400 | I268T/V377I |
| 2 | French | M | 3 | 3–5 | <1 | + | + | – | – | – | – | – | – | Pharyngitis | ND | I268T/V377I |
| 3 | French | F | <1 | 2 | 1–2 | + | – | + | – | – | – | ND | – | – | >800 | V377I/S329N |
| 4 | French | F | <1 | 3–4 | 1–2 | + | + | + | – | + | – | – | – | Conjunctivitis | normal | V377I/V377I |