OBO ID: DOID:0060022
Term Name: CD40 ligand deficiency Search Ontology:
Synonyms:
  • HIGMX-1
  • X-linked hyper-IgM syndrome
Definition: A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. https://www.ncbi.nlm.nih.gov/pubmed/30681380
References:
Ontology: Human Disease   ( DOID:0060022 )
Relationships
is a type of:
OTHER CD40 ligand deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CD40LG Immunodeficiency, X-linked, with hyper-IgM 308230
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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