Caspase recruitment domain-containing protein 9 / CARD9

Where it participates (unsigned role)

1. All four affected family members had a homozygous point mutation in CARD9 resulting in a premature termination codon Q295X, healthy family members had wild-type expression of the CARD9 protein while the four patients lacked wild-type expression which was associated with low numbers of interleukin-17-producing helper T cells, and functional studies based on genetic reconstitution of myeloid cells from Card9-null mice showed that the Q295X mutation impairs innate signalling from the antifungal pattern-recognition receptor dectin-1.

   The homozygous CARD9 Q295X premature termination variant → Dectin-1 / CLEC7A source_derived_draftungraded
   Experimental context and source evidence

   availability_state

   machinery_impairment Imported condition classification; unverified.

   evidence_span

   {"source_cache": "artifacts/glucan-research/19864672.abstract.txt", "locator": "Indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "41fdf4ca9e34eac18be47ed10f5eec82966269f2595759bc97a485f91d746de3", "start_char": 0, "end_char": 1842, "text_sha256": "41fdf4ca9e34eac18be47ed10f5eec82966269f2595759bc97a485f91d746de3"}

   experimental_model

   Homozygosity mapping and sequencing in a consanguineous five-generation family with 36 members enrolled

   exposure

   Naturally occurring homozygous CARD9 Q295X premature termination, with reconstitution in Card9-null mouse myeloid cells

   limitations

   Human genetics with a linkage score of 3.6 and functional confirmation. It establishes the importance of the pathway in host defence; it says nothing about beta-glucan as a supplement.

   nutrient_topic

   Beta-glucan research collection; topical membership is not evidence of a direct clinical effect, and each preparation is recorded as its own entity with no family link joining any pair. · Beta-glucan

   organism

   Human

   plain_language

   People born without this one signalling protein get persistent fungal infections, which is how much the pathway matters.

   primary_references

   [bg-p19864672] A homozygous CARD9 mutation in a family with susceptibility to fungal infections. (2009). https://pubmed.ncbi.nlm.nih.gov/19864672/ DOI: 10.1056/nejmoa0810719

   tissue_or_cell_type

   Leukocytes

   trigger_kind

   machinery_impairment Imported condition classification; unverified.

   Beta-glucan: a structural family rather than an agent, what decides whether a bound glucan actually signals, the complement route that a cereal and a yeast preparation share, and the unequal human evidence behind each (2026-09-22) · lines 411–422

   AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Homozygosity mapping and sequencing in a consanguineous five-generation family with 36 members enrolled · source_derived_draft · unverified_draft

   ### bg-losing-card9-costs-antifungal-defence All four affected family members had a homozygous point mutation in CARD9 resulting in a premature termination codon Q295X, healthy family members had wild-type expression of the CARD9 protein while the four patients lacked wild-type expression which was associated with low numbers of interleukin-17-producing helper T cells, and functional studies based on genetic reconstitution of myeloid cells from Card9-null mice showed that the Q295X mutation impairs innate signalling from the antifungal pattern-recognition receptor dectin-1. Condition category: machinery_impairment nutrient_topic: Beta-glucan research collection; topical membership is not evidence of a direct clinical effect, and each preparation is recorded as its own entity with no family link joining any pair. plain_language: People born without this one signalling protein get persistent fungal infections, which is how much the pathway matters. organism: Human tissue_or_cell_type: Leukocytes experimental_model: Homozygosity mapping and sequencing in a consanguineous five-generation family with 36 members enrolled limitations: Human genetics with a linkage score of 3.6 and functional confirmation. It establishes the importance of the pathway in host defence; it says nothing about beta-glucan as a supplement. exposure: Naturally occurring homozygous CARD9 Q295X premature termination, with reconstitution in Card9-null mouse myeloid cells evidence_span: {"source_cache": "artifacts/glucan-research/19864672.abstract.txt", "locator": "Indexed abstract; zero-based, end-exclusive Unicode character offsets", "file_sha256": "41fdf4ca9e34eac18be47ed10f5eec82966269f2595759bc97a485f91d746de3", "start_char": 0, "end_char": 1842, "text_sha256": "41fdf4ca9e34eac18be47ed10f5eec82966269f2595759bc97a485f91d746de3"} [bg-p19864672] A homozygous CARD9 mutation in a family with susceptibility to fungal infections. (2009). https://pubmed.ncbi.nlm.nih.gov/19864672/ DOI: 10.1056/nejmoa0810719

   Complete structured claim and evidence