Immunodeficiency with hyper-igm, type 2

Preferred Label : Immunodeficiency with hyper-igm, type 2;

Symbol : HIGM2;

CISMeF acronym : HIGM2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyper-igm syndrome 2;

Description : Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the activation-induced cytidine deaminase gene (AICDA, 605257.0001);

Prefixed ID : #605258;

Details

Origin ID

605258;

UMLS CUI

C1720956;

Automatic exact mappings (from CISMeF team)
- AICDA wt Allele [NCIt concept]
- activation induced cytidine deaminase [ORDO Gene]
- activation induced cytidine deaminase [HGNC gene]
Broader ORDO disease(s)
- Hyper-IgM syndrome without susceptibility to opportunistic infections [ORDO Disease]
Currated CISMeF NLP mapping
- Activation-induced cytidine deaminase deficiency [ICD-11 More detail]
- Hyper-IgM immunodeficiency syndrome, type 2 [MeSH concept]
- Hyper-IgM syndrome type 2 [ORDO Disease]
- Immunodeficiency with Hyper-IgM Type 2 [NCIt concept]
- immunodeficiency with hyper-IgM type 2 [DO Concept]
DO Cross reference
- immunodeficiency with hyper-IgM type 2 [DO Concept]
Genes related to phenotype
- Activation-induced cytidine deaminase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Immunodeficiency [HPO term]
- Impaired Ig class switch recombination [HPO term]
- Lymphadenopathy [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent infection of the gastrointestinal tract [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent upper and lower respiratory tract infections [HPO term]
- Recurrent upper and lower respiratory tract infections [HPO term]
ORDO concept(s)
- Hyper-IgM syndrome type 2 [ORDO Disease]
- Hyper-IgM syndrome without susceptibility to opportunistic infections [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Activation-induced cytidine deaminase deficiency [ICD-11 More detail]
- Hyper-IgM immunodeficiency syndrome, type 2 [MeSH concept]
- Hyper-IgM syndrome type 2 [ORDO Disease]
- Immunodeficiency with Hyper-IgM Type 2 [NCIt concept]
- immunodeficiency with hyper-IgM type 2 [DO Concept]
Validated automatic mappings to NTBT
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]

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