Immunodeficiency with Hyper-IgM, X-Linked, Type 1

Preferred Label : Immunodeficiency with Hyper-IgM, X-Linked, Type 1;

NCIt synonyms : Hyper-IgM Syndrome 1; HIGM1; X-Linked Hyper-IgM Syndrome;

NCIt definition : An X-linked subtype of hyper-IgM caused by mutation(s) in the CD40LG gene, encoding CD40 ligand. It is characterized by normal or elevated IgM concentrations, with markedly decreased concentrations of other immunoglobulins. The clinical course is variable; it manifests as susceptibility to bacterial and opportunistic infections, neutropenia, and increased risk of lymphoma.;

Details

Origin ID

C158531;

UMLS CUI

C0398689;

Automatic exact mappings (from CISMeF team)
- CD40 ligand deficiency [DO Concept]
Currated CISMeF NLP mapping
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH concept]
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH Descriptor]
- Hyper-IgM syndrome due to CD40 ligand deficiency [ICD-11 More detail]
- Immunodeficiency with hyper-igm, type 1 [OMIM Phenotype]
- X-linked hyper IgM syndrome [DO Concept]
- X-linked hyper-IgM syndrome [ORDO Disease]
- X-linked hyper-immunoglobulin M syndrome (disorder) [SNOMED CT concept]
- X-linked hyperimmunoglobulin M syndrome (finding) [Inactive SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH Descriptor]
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH concept]
- Hyper-IgM syndrome due to CD40 ligand deficiency [ICD-11 More detail]
- Immunodeficiency with hyper-igm, type 1 [OMIM Phenotype]
- X-linked hyper-IgM syndrome [ORDO Disease]
- X-linked hyper-immunoglobulin M syndrome (disorder) [SNOMED CT concept]
- X-linked hyperimmunoglobulin M syndrome (finding) [Inactive SNOMED CT concept]
disease_mapped_to_gene
- CD40LG Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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