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Article

Hyper-IgD syndrome with novel mutation in a Japanese girl.

Modern rheumatology - 1 Jan 2009

Naruto Takuya, Nakagishi Yasuo, Mori Masaaki, Miyamae Takako, Imagawa Tomoyuki, Yokota Shumpei

Abstract excerpt

Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is an autosomal recessive auto-inflammatory disorder characterized by recurrent febrile attacks with lymphadenopathy, abdominal distress, skin eruptions and joint involvement. We discuss the case of a 15-year-old Japanese girl who had presented with periodic fever, hepatosplenomegaly and intractable diarrhea from seven weeks of age. At first,...

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Source

Identifiers

PMID: 18941711
DOI: 10.1007/s10165-008-0130-4

Genes

MVK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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