Immunodeficiency with hyper-igm, type 4

Preferred Label : Immunodeficiency with hyper-igm, type 4;

Symbol : HIGM4;

CISMeF acronym : HIGM4;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Hyper-igm syndrome 4;

Description : Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).;

Inheritance : Autosomal recessive;

Neoplasia : Myelodysplasia;

Prefixed ID : 608184;

Details

Origin ID

608184;

UMLS CUI

C1842413;

Automatic exact mappings (from CISMeF team)
- UNG wt Allele [NCIt concept]
- uracil DNA glycosylase [ORDO Gene]
- uracil DNA glycosylase [HGNC gene]
Broader ORDO disease(s)
- Hyper-IgM syndrome without susceptibility to opportunistic infections [ORDO Disease]
Currated CISMeF NLP mapping
- Hyper-IgM syndrome type 4 [ORDO Disease]
- immunodeficiency with Hyper-Igm, type 4 [MeSH concept]
- immunodeficiency with Hyper-Igm, type 4 [MeSH Supplementary Concept]
- immunodeficiency with hyper-IgM type 4 [DO Concept]
DO Cross reference
- immunodeficiency with hyper-IgM type 4 [DO Concept]
HPO term(s)
- Absence of lymph node germinal center [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Frequent upper respiratory tract infections [HPO term]
- Immunodeficiency [HPO term]
- Impaired Ig class switch recombination [HPO term]
- Myelodysplasia [HPO term]
- Osteomyelitis [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent infection of the gastrointestinal tract [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
ORDO concept(s)
- Hyper-IgM syndrome type 4 [ORDO Disease]
- Hyper-IgM syndrome without susceptibility to opportunistic infections [ORDO Disease]
See also inter- (CISMeF)
- Hyper-IgM syndrome without susceptibility to opportunistic infections [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-IgM syndrome type 4 [ORDO Disease]
- immunodeficiency with Hyper-Igm, type 4 [MeSH Supplementary Concept]
- immunodeficiency with Hyper-Igm, type 4 [MeSH concept]
- immunodeficiency with hyper-IgM type 4 [DO Concept]

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