Immunodeficiency 67

Preferred Label : Immunodeficiency 67;

Symbol : IMD67;

CISMeF acronym : IRAK4D; IMD67;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Invasive pneumococcal disease, recurrent isolated; IPD; IKAK4D; Irak4 deficiency;

Included titles and symbols : Invasive pneumococcal disease, protection against;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 1 receptor-associated kinase 4 gene (IRAK4, 606883.0001);

Laboratory abnormalities : Increased C-reactive protein; Increased ESR;

Prefixed ID : #607676;

Détails

Origin ID

607676;

UMLS CUI

C1843256;

Automatic exact mappings (from CISMeF team)
- Infantile dystonia-parkinsonism [ORDO Disease]
Currated CISMeF NLP mapping
- IRAK4 deficiency [MeSH concept]
- IRAK4 deficiency [MeSH Supplementary Concept]
- Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency [ORDO Disease]
Genes related to phenotype
- Interleukin 1 receptor-associated kinase 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgE level [HPO term]
- Liver abscess [HPO term]
- Recurrent staphylococcal infections [HPO term]
- Recurrent streptococcal infections [HPO term]
- Transient neutropenia [HPO term]
Not associated HPO term(s)
- Abnormal B cell count [HPO term]
- Abnormal T cell count [HPO term]
- Abnormal natural killer cell count [HPO term]
ORDO concept(s)
- Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- IRAK4 deficiency [MeSH Supplementary Concept]
- IRAK4 deficiency [MeSH concept]
- Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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