ArticleJournal of clinical immunology2024
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
Article in Journal of clinical immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical features of patients with fungal infections caused by CARD9 deficiency: a literature review of case reports.Frontiers in cellular and infection microbiology · 2025Pooled it
- A possible founder IRAK4 variant in Okinawa, Japan.Journal of human immunity · 2026Article
- Inherited human CARD9 deficiency impairs lymphoid cell, but not fibroblast, IL-17-mediated immunity.JCI insight · 2026Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Phialophora americana infection in a patient with a compound heterozygous CARD9 mutation.BMC infectious diseases · 2025Article
- Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan.Journal of clinical immunology · 2024Article
Corrections and comments
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Authors and funding
23 authors.
Funding
Abstract
Autosomal recessive CARD9 deficiency can underly deep and superficial fungal diseases. We identified two Japanese patients, suffering from superficial and invasive Candida albicans diseases, carrying biallelic variants of CARD9. Both patients, in addition to another Japanese and two Korean patients who were previously reported, carried the c.820dup CARD9 variant, either in the homozygous (two patients) or heterozygous (three patients) state. The other CARD9 alleles were c.104G > A, c.1534C > T and c.1558del. The c.820dup CARD9 variant has thus been reported, in the homozygous or heterozygous state, in patients originating from China, Japan, or South Korea. The Japanese, Korean, and Chinese patients share a 10 Kb haplotype encompassing the c.820dup CARD9 variant. This variant thus originates from a common ancestor, estimated to have lived less than 4,000 years ago. While phaeohyphomycosis caused by Phialophora spp. was common in the Chinese patients, none of the five patients in our study displayed Phialophora spp.-induced disease. This difference between Chinese and our patients probably results from environmental factors. (161/250).
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