PPBL
MCID: PRS108
MIFTS: 35

Persistent Polyclonal B-Cell Lymphocytosis (PPBL) malady

Categories: Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Persistent Polyclonal B-Cell Lymphocytosis

Aliases & Descriptions for Persistent Polyclonal B-Cell Lymphocytosis:

Name: Persistent Polyclonal B-Cell Lymphocytosis 54 56 66 29 69 69
Ppbl 56 66
Persistent Polyclonal B-Cell Lymphocytosis with Binucleated Lymphocytes 56

Characteristics:

Orphanet epidemiological data:

56
persistent polyclonal b-cell lymphocytosis
Inheritance: Multigenic/multifactorial;

HPO:

32
persistent polyclonal b-cell lymphocytosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 606445
Orphanet 56 ORPHA300324
ICD10 via Orphanet 34 I72.8
MedGen 40 C1847973
MeSH 42 D008218

Summaries for Persistent Polyclonal B-Cell Lymphocytosis

UniProtKB/Swiss-Prot : 66 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 splenomegaly, 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 hematopoietic system

OMIM : 54 Persistent polyclonal B-cell lymphocytosis (PPBL) is characterized by chronic, stable, persistent, and polyclonal... (606445) more...

Wikipedia : 71 Persistent polyclonal B-cell lymphocytosis (PPBL) is an anomaly of the human immune system characterized... more...

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 by clinical synopsis from OMIM:

606445

Clinical features from OMIM:

606445

Human phenotypes related to Persistent Polyclonal B-Cell Lymphocytosis:

32
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 recurrent infections 32 HP:0002719
4 igm deficiency 32 HP:0002850

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

26
id 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 IL4 FAS
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:

44
id 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 FCER2 IL4 CARD11 FAS

Drugs & Therapeutics for Persistent Polyclonal B-Cell Lymphocytosis

Search Clinical Trials , 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:

id Genetic test Affiliating Genes
1 Persistent Polyclonal B-Cell Lymphocytosis 29

Anatomical Context for Persistent Polyclonal B-Cell Lymphocytosis

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

39
B Cells, T Cells, Eye, Spleen

Publications for Persistent Polyclonal B-Cell Lymphocytosis

Articles related to Persistent Polyclonal B-Cell Lymphocytosis:

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

id Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 8.96 CARD11 FAS
2 external side of plasma membrane GO:0009897 8.8 FAS FCER2 IL4

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

id Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.4 CARD11 IL4
2 positive regulation of protein phosphorylation GO:0001934 9.37 FAS IL4
3 B cell differentiation GO:0030183 9.32 CARD11 IL4
4 positive regulation of T cell proliferation GO:0042102 9.26 CARD11 IL4
5 immunoglobulin production GO:0002377 9.16 CARD11 FAS
6 positive regulation of B cell proliferation GO:0030890 8.96 CARD11 IL4
7 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 8.62 FAS IL4

Sources for Persistent Polyclonal B-Cell Lymphocytosis

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