Combined cellular and humoral immune defects with granulomas

Preferred Label : Combined cellular and humoral immune defects with granulomas;

Symbol : CCHIDG;

CISMeF acronym : CCHIDG;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the recombination-activating gene 1 (RAG1, 179615.0018); Caused by mutation in the recombination-activating gene 2 (RAG2, 179616.0009);

Prefixed ID : #233650;

Details

Origin ID

233650;

UMLS CUI

C2673536;

Automatic exact mappings (from CISMeF team)
- Primary immunodeficiency with skin granulomas [ICD-11 More detail]
Currated CISMeF NLP mapping
- Combined immunodeficiency with granulomatosis [ORDO Disease]
- Combined immunodeficiency with granulomatosis (disorder) [SNOMED CT concept]
- combined cellular and humoral immune defects with granulomas [DO Concept]
- combined cellular and humoral immune defects with granulomas [MeSH concept]
- combined cellular and humoral immune defects with granulomas [MeSH Supplementary Concept]
Genes related to phenotype
- Recombination-activating gene 1 [OMIM gene]
- Recombination-activating gene 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Combined immunodeficiency [HPO term]
- Decreased circulating IgG level [HPO term]
- Infantile onset [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory function loss [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- Combined immunodeficiency with granulomatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency with granulomatosis [ORDO Disease]
- combined cellular and humoral immune defects with granulomas [MeSH Supplementary Concept]
- combined cellular and humoral immune defects with granulomas [MeSH concept]

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