MCID: PRS108
MIFTS: 39

Persistent Polyclonal B-Cell Lymphocytosis

Categories: Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Persistent Polyclonal B-Cell Lymphocytosis

MalaCards integrated aliases for Persistent Polyclonal B-Cell Lymphocytosis:

Name: Persistent Polyclonal B-Cell Lymphocytosis 53 55 71 28 69
Ppbl 53 55 71
Persistent Polyclonal B-Cell Lymphocytosis with Binucleated Lymphocytes 55

Characteristics:

Orphanet epidemiological data:

55
persistent polyclonal b-cell lymphocytosis
Inheritance: Multigenic/multifactorial;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
adult-onset
increased prevalence among women
increased prevalence among smokers


HPO:

31
persistent polyclonal b-cell lymphocytosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 606445
Orphanet 55 ORPHA300324
UMLS via Orphanet 70 C1847973
ICD10 via Orphanet 33 I72.8
MedGen 39 C1847973
MeSH 41 D008218
SNOMED-CT via HPO 65 263681008 16294009 80515008
UMLS 69 C1847973

Summaries for Persistent Polyclonal B-Cell Lymphocytosis

UniProtKB/Swiss-Prot : 71 Persistent polyclonal B-cell lymphocytosis: 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.

MalaCards based summary : Persistent Polyclonal B-Cell Lymphocytosis, also known as ppbl, is related to b-cell expansion with nfkb and t-cell anergy and leukemia, chronic lymphocytic, and has symptoms including splenomegaly, hepatomegaly and recurrent infections. An important gene associated with Persistent Polyclonal B-Cell Lymphocytosis is CARD11 (Caspase Recruitment Domain Family Member 11), and among its related pathways/superpathways are NF-kappaB Signaling and Bacterial infections in CF airways. Affiliated tissues include b cells, t cells and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 Persistent polyclonal B-cell lymphocytosis (PPBL) is characterized by chronic, stable, persistent, and polyclonal lymphocytosis, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum IgM. It is significantly associated with cigarette smoking (summary by Cornet et al., 2009). (606445)

Related Diseases for Persistent Polyclonal B-Cell Lymphocytosis

Graphical network of the top 20 diseases related to Persistent Polyclonal B-Cell Lymphocytosis:



Diseases related to Persistent Polyclonal B-Cell Lymphocytosis

Symptoms & Phenotypes for Persistent Polyclonal B-Cell Lymphocytosis

Symptoms via clinical synopsis from OMIM:

53
Immunology:
b-cell lymphocytosis, b-cell, polyclonal
increased igm levels, polyclonal
binucleated lymphocytes


Clinical features from OMIM:

606445

Human phenotypes related to Persistent Polyclonal B-Cell Lymphocytosis:

31
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 recurrent infections 31 HP:0002719
4 igm deficiency 31 HP:0002850

GenomeRNAi Phenotypes related to Persistent Polyclonal B-Cell Lymphocytosis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.36 IL4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.36 FAS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.36 FAS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.36 FAS IL4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.36 FAS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.36 FAS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.36 FAS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.36 IL4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.36 IL4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.36 IL4

MGI Mouse Phenotypes related to Persistent Polyclonal B-Cell Lymphocytosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 CARD11 FAS FCER2 IL4
2 immune system MP:0005387 8.92 CARD11 FAS FCER2 IL4

Drugs & Therapeutics for Persistent Polyclonal B-Cell Lymphocytosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Epidemiologic Study of Persistent Polyclonal B-cell Lymphocytosis (PPBL) Completed NCT03296046

Search NIH Clinical Center for Persistent Polyclonal B-Cell Lymphocytosis

Genetic Tests for Persistent Polyclonal B-Cell Lymphocytosis

Genetic tests related to Persistent Polyclonal B-Cell Lymphocytosis:

# Genetic test Affiliating Genes
1 Persistent Polyclonal B-Cell Lymphocytosis 28 CARD11

Anatomical Context for Persistent Polyclonal B-Cell Lymphocytosis

MalaCards organs/tissues related to Persistent Polyclonal B-Cell Lymphocytosis:

38
B Cells, T Cells, Eye, Spleen

Publications for Persistent Polyclonal B-Cell Lymphocytosis

Articles related to Persistent Polyclonal B-Cell Lymphocytosis:

(show all 44)
# Title Authors Year
1
Absence of driver mutations in persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes. ( 28679739 )
2017
2
Persistent polyclonal B-cell lymphocytosis: two nuclei and sometimes more. ( 29271126 )
2017
3
Modifications in B-Lymphocyte Number and Phenotype in the Course of Pregnancy in a Woman with Persistent Polyclonal B-Cell Lymphocytosis: A Flow Cytometric Study. ( 26490519 )
2015
4
Symptomatic Massive Splenomegaly in Persistent Polyclonal B-cell Lymphocytosis Requiring Splenectomy. ( 26693179 )
2015
5
Persistent Polyclonal B Cell Lymphocytosis B Cells Can Be Activated through CD40-CD154 Interaction. ( 25580126 )
2014
6
Persistent polyclonal B-cell lymphocytosis: extensively proliferated CD27+IgM+IgD+ memory B cells with a distinctive immunophenotype. ( 24549258 )
2014
7
Persistent polyclonal B-cell lymphocytosis with splenomegaly: histologic description of 2 cases. ( 23715167 )
2013
8
Persistent polyclonal b-cell lymphocytosis: a diagnostic challenge. ( 23190164 )
2012
9
Histological and immunohistochemical features of the spleen in persistent polyclonal B-cell lymphocytosis closely mimic splenic B-cell lymphoma. ( 22901769 )
2012
10
Persistent polyclonal B-cell lymphocytosis in chronic smokers: more than meets the eye. ( 22670354 )
2012
11
EDTA-dependent lymphoagglutination in persistent polyclonal B-cell lymphocytosis. ( 21770917 )
2011
12
Persistent polyclonal B-cell lymphocytosis. ( 22279623 )
2011
13
IgM interference in determination of antiphospholipid antibodies and erythrocyte sedimentation rate in persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes. ( 21435190 )
2011
14
Long-term follow-up of 111 patients with persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes. ( 18668130 )
2009
15
Expression profiling of persistent polyclonal B-cell lymphocytosis suggests constitutive expression of the AP-1 transcription complex and downregulation of Fas-apoptotic and TGFbeta signalling pathways. ( 18754033 )
2009
16
Histopathological and molecular features of persistent polyclonal B-cell lymphocytosis (PPBL) with progressive splenomegaly. ( 19133977 )
2009
17
Selective defect of anti-pneumococcal IgG in a patient with persistent polyclonal B cell lymphocytosis. ( 19393481 )
2009
18
High incidence of ancestral HLA haplotype 8.1 and monoclonal incomplete DH-JH immunoglobulin heavy chain gene rearrangement in persistent polyclonal B-cell lymphocytosis. ( 18180922 )
2008
19
Combined automated cell and flow cytometric analysis enables recognition of persistent polyclonal B-cell lymphocytosis (PPBL), a study of 25 patients. ( 18587574 )
2008
20
Persistent polyclonal B-cell lymphocytosis: a case report. ( 16988824 )
2006
21
Functional T-cell anergy in a case of persistent polyclonal B-cell lymphocytosis. ( 15979703 )
2005
22
Dysfunction of the Fas apoptotic signaling pathway in persistent polyclonal B-cell lymphocytosis. ( 12604424 )
2003
23
Persistent polyclonal B-cell lymphocytosis. ( 12017755 )
2002
24
Analysis of expressed V(H) genes in persistent polyclonal B cell lymphocytosis reveals absence of selection in CD27+IgM+IgD+ memory B cells. ( 12516560 )
2002
25
No BCL-2 protein over expression but BCL-2/IgH rearrangements in B cells of patients with persistent polyclonal B-cell lymphocytosis. ( 11920254 )
2001
26
Lack of CD40-dependent B-cell proliferation in B lymphocytes isolated from patients with persistent polyclonal B-cell lymphocytosis. ( 11380461 )
2001
27
Familial persistent polyclonal B-cell lymphocytosis. ( 11342368 )
2001
28
Persistent polyclonal B-cell lymphocytosis in a middle-aged, smoking woman with typical morphologic and genetic hallmarks. ( 11532639 )
2001
29
Persistent polyclonal B-cell lymphocytosis: further evidence for a genetic disorder associated with B-cell abnormalities. ( 11552996 )
2001
30
Persistent polyclonal B-cell lymphocytosis is an expansion of functional IgD(+)CD27(+) memory B cells. ( 11529864 )
2001
31
Persistent polyclonal B-cell lymphocytosis--an important differential diagnosis of B-cell chronic lymphocytic leukemia. ( 10901613 )
2000
32
Isochromosome +i(3)(q10) in a new case of persistent polyclonal B-cell lymphocytosis (PPBL) ( 10863981 )
2000
33
CD5+ persistent polyclonal B-cell lymphocytosis in a male. ( 10342588 )
1999
34
Distinct chromosome 3 abnormalities in persistent polyclonal B-cell lymphocytosis. ( 10502320 )
1999
35
Bilobulated circulating lymphocytes in persistent polyclonal B-cell lymphocytosis. ( 10457412 )
1999
36
Large cell lymphoma complicating persistent polyclonal B cell lymphocytosis. ( 9665185 )
1998
37
All patients with persistent polyclonal B cell lymphocytosis present Bcl-2/Ig gene rearrangements. ( 9922047 )
1998
38
Distribution of the cytogenetic abnormality +i(3)(q10) in persistent polyclonal B-cell lymphocytosis: a FICTION study in three cases. ( 9401061 )
1997
39
Persistent polyclonal B-cell lymphocytosis in identical twins. ( 9029012 )
1997
40
Multiple bcl-2/Ig gene rearrangements in persistent polyclonal B-cell lymphocytosis. ( 9207405 )
1997
41
Epstein-Barr virus-associated persistent polyclonal B-cell lymphocytosis with a distinct 69-base pair deletion in the LMP1 oncogene. ( 9031611 )
1997
42
Role of Epstein-Barr virus and soluble CD21 in persistent polyclonal B-cell lymphocytosis. ( 7646990 )
1995
43
Chronic active Epstein-Barr virus disease in a case of persistent polyclonal B-cell lymphocytosis. ( 7646989 )
1995
44
Persistent polyclonal B-cell lymphocytosis. ( 7934138 )
1994

Variations for Persistent Polyclonal B-Cell Lymphocytosis

Expression for Persistent Polyclonal B-Cell Lymphocytosis

Search GEO for disease gene expression data for Persistent Polyclonal B-Cell Lymphocytosis.

Pathways for Persistent Polyclonal B-Cell Lymphocytosis

GO Terms for Persistent Polyclonal B-Cell Lymphocytosis

Cellular components related to Persistent Polyclonal B-Cell Lymphocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 8.62 CARD11 FAS

Biological processes related to Persistent Polyclonal B-Cell Lymphocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.32 CARD11 IL4
2 B cell differentiation GO:0030183 9.26 CARD11 IL4
3 positive regulation of T cell proliferation GO:0042102 9.16 CARD11 IL4
4 T cell activation GO:0042110 8.96 CARD11 IL4
5 positive regulation of B cell proliferation GO:0030890 8.62 CARD11 IL4

Sources for Persistent Polyclonal B-Cell Lymphocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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