RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
HIGM1; HIGM1 syndrome; HIGM1 syndromes; HIGMX-1; Hyper IgM Syndrome 1; IHIS; IMD3; IMMUNODEFICIENCY 3; IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM; Immunodeficiency with Hyper IgM, Type 1; X-linked hyper-IgM immunodeficiencies; X-linked hyper-IgM immunodeficiency; X-linked hyper-IgM syndrome; X-linked hyper-immunoglobulin M (IgM) syndrome; XHIGM; XHIM; hyper-IgM immunodeficiency syndrome, type 1
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human)
DNA:mutation:splicing site: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia