XMEN
Synonyms: CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency · X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | XMEN | CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency · X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
| fr | XMEN | CID par déficit en MAGT1 · DIC par déficit en MAGT1 · Déficit immunitaire combiné par déficit en MAGT1 · Déficit immunitaire lié à l'X avec déficit en magnésium, infection et néoplasie liées à l'EBV · Immunodéficience combinée par déficit en MAGT1 · Immunodéficience liée à l'X avec déficit en magnésium, infection et néoplasie liées au virus Epstein-Barr · Immunodéficience liée à l'X avec déficit en magnésium, infection et néoplasie liées à l'EBV |
| de | XMEN | CID durch MAGT1-Mangel · Immundefekt, X-chromosomaler, mit Magnesium-Defekt, Epstein-Barr-Virus-Infektion und Neoplasie · Immundefekt, kombinierter, durch MAGT1-Defizienz |
| es | XMEN | CID por deficiencia de MAGT1 · Deficiencia de magnesio ligada al cromosoma X con infección por el virus de Epstein-Barr y neoplasia · Inmunodeficiencia combinada por deficiencia de MAGT1 · Inmunodeficiencia ligada al cromosoma X con deficiencia de magnesio, infección por el virus de Epstein-Barr y neoplasia |
| it | XMEN | CID da deficit di MAGT1 · Immunodeficienza combinata da deficit di MAGT1 · Immunodeficienza legata all'X con deficit di magnesio, infezione da virus di Epstein-Barr e neoplasia |
| nl | XMEN | CID door MAGT1-deficiëntie · Gecombineerde immuundeficiëntie door MAGT1-deficiëntie · X-gebonden immuundeficiëntie met magnesiumdefect, infectie door Epstein-Barrvirus en neoplasie · XMEN |
| pt | XMEN | CID devido à deficiência de MAGT1 · Imunodeficiência combinada devido à deficiência MAGT1 · Imunodeficiência ligada ao X com defeito de magnésio, infeção pelo virus Epstein-Barr e neoplasia |
| pl | Niedobór odporności sprzężony z chromosomem X z niedoborem magnezu, zakażeniem wirusem Epsteina i Barra i nowotworem | CID z powodu deficytu MAGT1 · XMEN · Złożony Niedobór odporności z powodu deficytu MAGT1 |
| cs | X-vázaná imunodeficience s defektem metabolismu hořčíku, infekcí virem Epstein-Barrové a neopláziemi | XMEN · CID způsobená deficitem MAGT1 · Kombinovaná imunodeficience způsobená deficitem MAGT1 |
| uk | XMEN | КІД внаслідок дефіциту MAGT1 · Комбінований імунодефіцит внаслідок дефіциту MAGT1 · Х-зчеплений імунодефіцит з дефіцитом магнію, інфекцією вірусу Епштейна-Барр та новоутвореннями |
| zh | 镁缺乏、EB病毒感染及肿瘤的X染色体连锁免疫缺陷病 | MAGT1基因缺陷所致联合免疫缺陷 |
| tr | Magnezyum defekti, Epstein-Barr virüs enfeksiyonu ve neoplazi ile seyreden X'e bağlı immün yetmezlik | XMEN · MAGT1 eksikliğine bağlı CID · MAGT1 eksikliğine bağlı kombine immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300853 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0010455 | E | validated | |
| UMLS | C3275445 | E | validated | |
| GARD | 10907 | 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 (3):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAGT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:28880 | ENSG00000102158 | 300715 | Xq21.1 | magnesium transporter 1 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24550228[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24550228[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/317476
- This record as JSON: /data/d/317476.json