Persistent polyclonal B-cell lymphocytosis

General Information (adopted from Orphanet):

Synonyms, Signs: B CELL EXPANSION WITH NFKB AND T CELL ANERGY
PPBL
BENTA
Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes
Number of Symptoms 13
OrphanetNr: 300324
OMIM Id: 606445
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lymphoid hemopathy
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002240) Hepatomegaly 467 / 7739
2
 (HPO:0001744) Splenomegaly 337 / 7739
3
 (HPO:0002850) IgM deficiency 18 / 7739
4
 (HPO:0002716) Lymphadenopathy 129 / 7739
5
 (HPO:0002719) Recurrent infections 107 / 7739
6
 (HPO:0008940) Generalized lymphadenopathy 14 / 7739
7
 (OMIM) Defective antibody production against polysaccharide-based vaccines 1 / 7739
8
 (OMIM) Relative T-cell anergy 1 / 7739
9
 (OMIM) Normal titers to T cell-dependent vaccines 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Lymphocytosis, polyclonal B-cell 1 / 7739
12
 (OMIM) Chronic lymphocytic leukemia, B-cell, susceptibility to 1 / 7739
13
 (OMIM) Bone marrow shows lymphoid hyperplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Snow et al. (2012) reported a man and his 2 daughters with persistent polyclonal B-cell lymphocytosis beginning in infancy. The father had originally been reported by Darte et al. (1971). He presented at age 7 months with splenomegaly ...
Molecular genetics OMIM In a man and his 2 daughters with persistent polyclonal B-cell lymphocytosis, Snow et al. (2012) identified a germline heterozygous mutation in the CARD11 gene (E127G; 607210.0001). The mutation was found by massively parallel mRNA sequencing and searching ...