Persistent polyclonal B-cell lymphocytosis
Synonyms: PPBL · Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- No data available
- Status
- active
Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Persistent polyclonal B-cell lymphocytosis | PPBL · Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes |
| fr | Lymphocytose B polyclonale persistante | Hyperlymphocytose B polyclonale persistante · LPLB · Lymphocytose B polyclonale persistante à lymphocytes binucléés · PPBL |
| de | B-Zell Lymphozytose, persistente polyklonale | PPBL · Persistente polyklonale B-Zell Lymphozytose mit binukleären Lymphozyten |
| es | Linfocitosis policlonal de células B persistente | LBPP · Linfocitosis policlonal de células B persistente con linfocitos binucleados · PPBL |
| it | Linfocitosi B policlonale persistente | Linfocitosi B policlonale persistente con linfociti binucleati · PPBL |
| nl | Persisterende polyklonale B-cellymfocytose | PPBL · Persisterende polyklonale B-cellymfocytose met binucleaire lymfocyten |
| pt | Linfocitose persistente de células B policlonais | |
| pl | Przetrwała poliklonalna limfocytoza B-komórkowa | PPBL · Przetrwała poliklonalna limfocytoza B-komórkowa z limfocytami z podwójnym jądrem |
| cs | Perzistující polyklonální B-buněčná lymfocytóza | PPBL · Perzistentní polyklonální B-buněčná lymfocytóza s dvoujadernými lymfocyty |
| uk | Персистуючий поліклональний В-клітинний лімфоцитоз | Персистуючий поліклональний В-клітинний лімфоцитоз з двоядерними лімфоцитами · PPBL |
| zh | 持续性多克隆B淋巴细胞增多症 | 持续性多克隆B淋巴细胞增多症伴双核淋巴细胞 |
| tr | Kalıcı poliklonal B-hücreli lenfositoz | PPBL · İki çekirdekli lenfositler ile seyreden kalıcı poliklonal B hücreli lenfositoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606445 | E | validated | |
| ICD-10 | D72.8 | NTBT | attributed | validated |
| MONDO | 0011672 | E | validated | |
| MeSH | C564707 | E | validated | |
| UMLS | C1847973 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:171898Lymphoid hemopathy
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CARD11 | Major susceptibility factor in | Assessed | HGNC:16393 | ENSG00000198286 | 607210 | 7p22.2 | caspase recruitment domain family member 11 | 25352053[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 154 cases | Worldwide | Case(s) | Validated | 18668130[PMID]_21396665[PMID]_2785931[PMID]_7934138[PMID]_11552996[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300324
- This record as JSON: /data/d/300324.json