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Gastrointestinal infiltration by atypical mast cell aggregates is a key feature of systemic mastocytosis (SM). However, not all patients with this finding meet SM criteria. We describe one such patient's presentation. To read this article in full you will need to make a payment ACAAI Member Login ACAAI Member, full access to the journal is a member benefit. Use your society credentials to access all journal content and features. Already an online subscriber?
To view the full text, please login as a subscribed user or purchase a subscription. Click here to view the full text on ScienceDirect. Hyper IgD syndrome (HIDS) associated with mutations in the gene encoding mevalonate kinase ( MVK) is reported in approximately 75% of cases. Similar clinical phenotypes have been described in the absence of such mutations, known as variant HIDS. Gene mutations in variant HIDS have not been well characterized in literature.
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