Activated PI3K-delta syndrome
Synonyms: APDS · Activated p110-delta syndrome · PASLI · PI3K delta activating mutations causing senescent T cells, lymphadenopathy and immunodeficiency · Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Childhood, Infancy
- Status
- active
A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Activated PI3K-delta syndrome | APDS · Activated p110-delta syndrome · PASLI · PI3K delta activating mutations causing senescent T cells, lymphadenopathy and immunodeficiency · Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation |
| fr | Syndrome de PI3K-delta activée | APDS · Syndrome de déficit immunitaire-lymphadénopathie et cellules T sénescentes dus à des mutations activatrices de p110delta · Syndrome de p110-delta activé |
| de | Aktivierendes PIK3-delta-Syndrom | APDS · Aktivierendes p110-Delta-Syndrom · PASLI · Seneszierende T-Zellen, Lymphadenopathie und Immundefizienz durch p110delta-aktivierende Mutationen |
| es | Síndrome de PI3K-delta activado | APDS · PASLI · Síndrome de células-T senescentes-linfadenopatía-inmunodeficiencia por una mutación activadora de PI3K delta · Síndrome de células-T senescentes-linfadenopatía-inmunodeficiencia por una mutación activadora de p110delta · Síndrome de p110-delta activado |
| it | Sindrome da attivazione di PI3K-delta | APDS · Immunodeficienza, linfadenopatia e cellule T senescenti dovuti da mutazioni attivanti di p110delta · Sindrome da p110-delta attivata · PASLI · Mutazioni attivanti di PI3K delta associate a cellule T senescenti, linfadenopatia e immunodeficienza |
| nl | Geactiveerd PI3K-delta-syndroom | APDS · Geactiveerd p110-delta-syndroom · PASLI · PI3K-delta-activerende mutaties die senescente T-cellen, lymfadenopathie en immuundeficiëntie veroorzaken · Senescente T-cellen - lymfadenopathie - immuundeficiëntie-syndroom door p110delta-activerende mutatie |
| pt | Síndrome de activação PIK3 - delta | |
| pl | Zespół aktywacji PIK3-delta | APDS · Zespół starzejących się komórek T, limfadenopatii i niedoboru odporności spowodowany mutacją aktywności p110delta |
| cs | Syndrom aktivované PI3K-delta | APDS · Syndrom zahrnující stárnoucí T-buňky, lymfadenopatii a imunodeficienci, způsobený mutací aktivovanou p110delta |
| uk | Синдром активованої PI3K-дельта | APDS · Синдром старіння Т-лімфоцитів-лімфаденопатії-імунодефіциту, зумовлений мутацією, що активує p110delta |
| zh | 激活PI3K-δ综合征 | P110δ激活突变所致衰老T细胞-淋巴结病-免疫缺陷综合征 |
| tr | Aktif PI3K-delta sendromu | APDS · P110delta'yı aktive eden mutasyona bağlı yaşlanmış T-hücreleri-lenfadenopati-immün yetmezlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615513 | BTNT | validated | |
| OMIM | 616005 | BTNT | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| MONDO | 0018338 | E | validated | |
| MONDO | 18338 | E | validated | |
| MeSH | C585640 | E | validated | |
| UMLS | C3714976 | E | validated | |
| GARD | 11983 | E | validated | |
| MedDRA | 10078281 | 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 (2):
- ORPHA:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | 34052541[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 34052541[PMID]_31111319[PMID]_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
24 annotations · validated 2023-01-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002090 | Pneumonia | |
| HP:0200117 | Recurrent upper and lower respiratory tract infections | |
| Frequent (79-30%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0002110 | Bronchiectasis | |
| HP:0011109 | Chronic sinusitis | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0010976 | Decreased total B cell count | |
| HP:0002240 | Hepatomegaly | |
| HP:0003496 | Increased circulating IgM level | |
| HP:0011956 | Intestinal lymphoid nodular hyperplasia | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000403 | Recurrent otitis media | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| HP:0001369 | Arthritis | |
| HP:0001508 | Failure to thrive | |
| HP:0000365 | Hearing impairment | |
| HP:0002665 | Lymphoma | |
| HP:0000252 | Microcephaly | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0011110 | Recurrent tonsillitis | |
| HP:0031693 | Severe Epstein Barr virus infection | |
| HP:0031692 | Severe cytomegalovirus infection | |
| HP:0032170 | Severe varicella zoster infection | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 27555459[PMID]_27116393[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397596
- This record as JSON: /data/d/397596.json