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Article

Unique phenotypes of C1s deficiency and abnormality caused by two compound heterozygosities in a Japanese family.

Journal of immunology (Baltimore, Md. : 1950) - 1 Feb 2009

Abe Katsuaki, Endo Yuichi, Nakazawa Naomi, Kanno Kazuko, Okubo Mitsuo, Hoshino Tadashi, Fujita Teizo

Abstract excerpt

A deficiency in the early components of complement is associated with an increased susceptibility to pyrogenic infections and multiple autoimmune diseases. We previously reported a Japanese case of selective C1s deficiency resulting from a compound heterozygosity for a 4-bp deletion in exon X and a nonsense mutation Glu597X in exon XII of the C1s gene. In this previous case, the patient suffered from unique...

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PMID: 19155518
DOI: 10.4049/jimmunol.182.3.1681

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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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