Immunodeficiency, Common Variable, 8, with Autoimmunity

Preferred Label : Immunodeficiency, Common Variable, 8, with Autoimmunity;

NCIt synonyms : CVID8;

NCIt related terms : LRBA Deficiency;

NCIt definition : An autosomal recessive common variable immunodeficiency caused by mutation(s) in the LRBA gene, encoding lipopolysaccharide-responsive and beige-like anchor protein. It is characterized by recurrent infections and the development of autoimmune disorders.;

Details

Origin ID

C176809;

UMLS CUI

C3553512;

Currated CISMeF NLP mapping
- Combined immunodeficiency due to LRBA deficiency [ORDO Disease]
- Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency, common variable, 8, with autoimmunity [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder) [SNOMED CT concept]
- Immunodeficiency, common variable, 8, with autoimmunity [OMIM Phenotype]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_mapped_to_gene
- LRBA Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

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