Immunodeficiency with hyper-igm, type 3

Preferred Label : Immunodeficiency with hyper-igm, type 3;

Symbol : HIGM3;

CISMeF acronym : HIGM3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyper-igm syndrome 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the CD40 gene (TNFRSF5, 109535.0001).;

Prefixed ID : #606843;

Details

Origin ID

606843;

UMLS CUI

C1720957;

Automatic exact mappings (from CISMeF team)
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]
Broader ORDO disease(s)
- Hyper-IgM syndrome with susceptibility to opportunistic infections [ORDO Disease]
Currated CISMeF NLP mapping
- Hyper-IgM immunodeficiency syndrome, type 3 [MeSH concept]
- Hyper-IgM syndrome due to CD40 deficiency [ICD-11 More detail]
- Hyper-IgM syndrome type 3 [ORDO Disease]
- Immunodeficiency with Hyper-IgM, Type 3 [NCIt concept]
- immunodeficiency with hyper IgM type 3 [DO Concept]
DO Cross reference
- immunodeficiency with hyper IgM type 3 [DO Concept]
Genes related to phenotype
- Cd40 antigen [OMIM gene]
HPO term(s)
- Absence of lymph node germinal center [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgE [HPO term]
- Decreased circulating IgG level [HPO term]
- Immunodeficiency [HPO term]
- Impaired Ig class switch recombination [HPO term]
- Impaired memory B cell generation [HPO term]
- Increased circulating IgM level [HPO term]
- Neutropenia [HPO term]
- Normal or increased IgM [HPO term]
- Recurrent bacterial infections [HPO term]
- Serum IgA, IgG, and IgE severely deficient [HPO term]
ORDO concept(s)
- Hyper-IgM syndrome type 3 [ORDO Disease]
- Hyper-IgM syndrome with susceptibility to opportunistic infections [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-IgM immunodeficiency syndrome, type 3 [MeSH concept]
- Hyper-IgM syndrome due to CD40 deficiency [ICD-11 More detail]
- Hyper-IgM syndrome type 3 [ORDO Disease]
- Immunodeficiency with Hyper-IgM, Type 3 [NCIt concept]
- immunodeficiency with hyper IgM type 3 [DO Concept]

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