Persistent polyclonal b-cell lymphocytosis

Preferred Label : Persistent polyclonal b-cell lymphocytosis;

Symbol : PPBL;

CISMeF acronym : PPBL;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Persistent polyclonal B-cell lymphocytosis is an autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy (summary by Snow et al., 2012).;

Inheritance : Autosomal dominant;

Prefixed ID : 606445;

Details

Origin ID

606445;

UMLS CUI

C1847973;

Automatic exact mappings (from CISMeF team)
- CARD11 wt Allele [NCIt concept]
- Persistent polyclonal B-cell lymphocytosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Persistent polyclonal B-cell lymphocytosis [ORDO Disease]
- persistent polyclonal B-Cell lymphocytosis [MeSH concept]
- persistent polyclonal B-Cell lymphocytosis [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased circulating total IgM [HPO term]
- Hepatomegaly [HPO term]
- Lymphocytosis [HPO term]
- Recurrent infections [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Persistent polyclonal B-cell lymphocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Persistent polyclonal B-cell lymphocytosis [ORDO Disease]
- Persistent polyclonal B-cell lymphocytosis (disorder) [SNOMED CT concept]
- persistent polyclonal B-Cell lymphocytosis [MeSH Supplementary Concept]
- persistent polyclonal B-Cell lymphocytosis [MeSH concept]

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