EBV-induced lymphoproliferative disease due to CARMIL2 deficiency
Synonyms: EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EBV-induced lymphoproliferative disease due to CARMIL2 deficiency | EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency |
| fr | Maladie lymphoproliférative associée à l'EBV par déficit en CARMIL2 | Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine capping protein regulator and myosin 1 linker 2 |
| de | EBV-induzierte lymphoproliferative Krankheit durch CARMIL2-Mangel | CARMIL2-Defizienz |
| es | Enfermedad linfoproliferativa inducida por EBV por deficiencia de CARMIL2 | Enfermedad linfoproliferativa inducida por EBV por deficiencia del regulador de la proteína de 'capping' y conector de miosina 1 tipo 2 |
| it | Malattia linfoproliferativa indotta da EBV da deficit di CARMIL2 | Malattia linfoproliferativa indotta da EBV da deficit del regolatore della proteina capping e del linker 2 della miosina 1 |
| nl | EBV-geïnduceerde lymfoproliferatieve ziekte door CARMIL2-deficiëntie | EBV-geïnduceerde lymfoproliferatieve ziekte door deficiëntie van 'capping protein regulator and myosin 1 linker 2' |
| pt | Imunodeficiência combinada por deficiência CARMIL2 | Imunodeficiência combinada por deficiência RLTPR |
| pl | Ciężki złożony niedobór odporności z powodu deficytu CARMIL2 | Ciężki złożony niedobór odporności z powodu niedoboru RLTPR |
| cs | Závažná kombinovaná imunodeficience způsobená deficitem CARMIL2 | Závažná kombinovaná imunodeficience způsobená deficitem RLTPR |
| uk | Комбінований імунодефіцит внаслідок дефіциту CARMIL2 | Комбінований імунодефіцит внаслідок дефіциту RLTPR |
| zh | CARMIL2基因缺陷诱导的重症联合型免疫缺陷病 | RLTPR基因缺陷诱导的重症联合型免疫缺陷病 |
| tr | CARMIL2 eksikliğine bağlı ağır kombine immün yetmezlik | RLTPR eksikliğine bağlı ağır kombine immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618131 | E | validated | |
| ICD-10 | D82.3 | NTBT | attributed | validated |
| MONDO | 0029134 | E | validated | |
| MONDO | 29134 | E | validated | |
| UMLS | C5568557 | 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 (4):
- ORPHA:664456Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
rare genetic diseases; rare immunological diseases - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:480549Non-severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CARMIL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:27089 | ENSG00000159753 | 610859 | 16q22.1 | capping protein regulator and myosin 1 linker 2 | 29226302[PMID]_27896283[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 27896283[PMID]_27647349[PMID]_28112205[PMID]_29479355[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27896283[PMID]_27647349[PMID]_28112205[PMID]_29479355[PMID] |
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/542301
- This record as JSON: /data/d/542301.json