PMC5904195_01
(A) Cutaneous vasculitis over both lower extremities of the index case [V-2; (C)]. (B) Skin biopsy of the lesion showing a dermal perivascular and interstitial infiltrate of predominantly neutrophils and nuclear dust which is compatible with leukocytoclastic vasculitis (haematoxylin & eosin stain, high magnification). (C) Family pedigree. (D) Sanger sequencing confirmed a homozygous G/G mutation (single black line) at position 1,139 of complement factor I gene in the index case and the asymptomatic brother; a heterozygous A/G state (Green/black line) was confirmed in both parents.
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F1
At the age of 3 years she developed a recurrent vasculitic rash affecting her arms, legs, and lower abdomen with palpable purpura (Figure 1A) this was associated with abdominal pain and arthralgia of the knees suggestive of a diagnosis of chronic IgA vasculitis (previously referred to as Henoch Schonlein purpura). Skin biopsy at that stage revealed a dermal perivascular (mainly surrounding capillaries) and interstitial infiltrate composed predominantly of neutrophils and nuclear dust (Figure 1B). The family history (Figure 1C) revealed that parents were first cousins and were clinically well; her brother (aged 11 years) was also fit and well. Physical examination demonstrated an injected left middle ear with effusion; and vasculitic rash affecting the lower limbs (Figure 1A). This homozygous mutation was confirmed to be present using Sanger sequencing in the index case (Figure 1C), and has very recently been described in homozygotic state in a single case with CFI deficiency. Sanger sequencing in other family members confirmed that both parents were heterozygous for this mutation; and that her asymptomatic brother (V-1) was also homozygous for this mutation (Figure 1D).