Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Synonyms: Primary immunodeficiency with post-MMR vaccine viral infection
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | Primary immunodeficiency with post-MMR vaccine viral infection |
| fr | Déficit immunitaire primaire avec infection virale disséminée post-vaccination de la rougeole, des oreillons et de la rubéole | Déficit immunitaire primaire avec infection virale disséminée post-vaccination ROR |
| de | Immundefekt, primärer, mit Virusinfektion nach MMR-Impfung | Immundefekt, primärer, mit disseminierter Masern-Infektion durch Impfvirus |
| es | Inmunodeficiencia primaria con infección viral post- vacunación sarampión-paperas-rubéola | Inmunodeficiencia primaria con infección viral post-SPR |
| it | Immunodeficienza primitiva con infezione virale post-vaccinazione anti morbillo-parotite-rosolia | Immunodeficienza primitiva con infezione disseminata da morbillo vaccinale |
| nl | Primaire immuundeficiëntie met virale infectie na mazelen-bof-rodehond-vaccinatie | Primaire immuundeficiëntie met virale infectie na MBR-vaccinatie |
| pt | Imunodeficiência primária devido a défice de STAT2 | |
| pl | Pierwotny niedobór odporności z infekcją wirusową po szczepionce przeciw śwince-odrze-różyczce (MMR) | Pierwotny niedobór odporności z infekcją wirusową po szczepionce MMR |
| cs | Primární imunodeficit způsobený deficitem STAT2 | Primární imunodeficience s diseminací očkovacího kmene spalniček |
| uk | Первинний імунодефіцит з поствакцинальною вірусною інфекцією кору-паротиту-краснухи | Первинний імунодефіцит з пост-ММР-вакцинальною вірусною інфекцією |
| zh | 原发性免疫缺陷伴麻腮风疫苗接种后易感 | 原发性免疫缺陷伴麻腮风疫苗接种后易感 |
| tr | Kızamık-kabakulak-kızamıkçık aşısı viral enfeksiyonu ile seyreden primer immün yetmezlik | MMR aşısı sonrası viral enfeksiyon ile seyreden primer immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616636 | BTNT | validated | |
| OMIM | 616669 | BTNT | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| MONDO | 0014715 | E | validated | |
| UMLS | C5190882 | 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:431156Primary immunodeficiency with predisposition to severe viral infection
rare genetic diseases; rare immunological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11363 | ENSG00000170581 | 600556 | 12q13.3 | signal transducer and activator of transcription 2 | 23391734[PMID] |
| IFNAR2 | Major susceptibility factor in | Assessed | HGNC:5433 | ENSG00000159110 | 602376 | 21q22.11 | interferon alpha and beta receptor subunit 2 | 26424569[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 26424569[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26424569[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/431166
- This record as JSON: /data/d/431166.json