Immunodeficiency 68

Preferred Label : Immunodeficiency 68;

Symbol : IMD68;

CISMeF acronym : MYD88D; IMD68;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Recurrent pyogenic bacterial infections due to myd88 deficiency; Pyogenic bacterial infections, recurrent, due to myd88 deficiency; MYD88D; Myd88 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MYD88 innate immune signal transduction adaptor gene (MYD88, 602170.0001);

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

Prefixed ID : #612260;

Details

Origin ID

612260;

UMLS CUI

C2677092;

Automatic exact mappings (from CISMeF team)
- MYD88 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Bacterial susceptibility due to TLR signaling pathway deficiency [ORDO Disease]
- MYD88 deficiency [MeSH concept]
- MYD88 deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Myd88 innate immune signal transduction adaptor [OMIM gene]
HPO term(s)
- Abnormal natural killer cell count [HPO term]
- Abscess [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Delayed umbilical cord separation [HPO term]
- Lymphadenitis [HPO term]
- Recurrent meningitis [HPO term]
- Recurrent skin infections [HPO term]
- Sepsis [HPO term]
- Septic arthritis [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- Bacterial susceptibility due to TLR signaling pathway deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bacterial susceptibility due to TLR signaling pathway deficiency [ORDO Disease]
- MYD88 deficiency [MeSH Supplementary Concept]
- MYD88 deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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