Immunodeficiency 57 with autoinflammation

Preferred Label : Immunodeficiency 57 with autoinflammation;

Symbol : IMD57;

CISMeF acronym : IMD57;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the receptor-interacting serine/threonine kinase 1 gene (RIPK1, 603453.0001);

Prefixed ID : #618108;

Details

Origin ID

618108;

UMLS CUI

C4748212;

Currated CISMeF NLP mapping
- Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) [SNOMED CT concept]
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome [ORDO Disease]
- immunodeficiency 57 [DO Concept]
DO Cross reference
- immunodeficiency 57 [DO Concept]
Genes related to phenotype
- Receptor-interacting serine/threonine kinase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Bronchiectasis [HPO term]
- Chronic lung disease [HPO term]
- Decreased circulating antibody level [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Gastritis [HPO term]
- Infantile onset [HPO term]
- Inflammation of the large intestine [HPO term]
- Neonatal onset [HPO term]
- Partial absence of specific antibody response to tetanus vaccine [HPO term]
- Perianal abscess [HPO term]
- Recurrent respiratory infections [HPO term]
- Reduced natural killer cell count [HPO term]
- Skin rash [HPO term]
- T lymphocytopenia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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