ORPHA:726442
Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections
Synonyms: CID with hypo/agammaglobulinemia and opportunistic infections · CID due to IRF4 multimorphic variant · Multimorphic IRF4 CID
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections | CID with hypo/agammaglobulinemia and opportunistic infections · CID due to IRF4 multimorphic variant · Multimorphic IRF4 CID |
| fr | Déficit immunitaire combiné avec hypo/agammaglobulinémie et infections opportunistes | DIC avec hypo/agammaglobulinémie et infections opportunistes · CID avec hypo/agammaglobulinémie et infections opportunistes · CID due à un variant IRF4 mutlimorphique · DIC dû à un variant IRF4 mutlimorphique |
| de | Kombinierter Immundefekt mit Hypo-/Agammaglobulinämie und opportunistischen Infektionen | CID durch IRF4-Defizienz · Kombinierter Immundefekt durch multimorphe IRF4-Variante · CID mit Hypo-/Agammaglobulinämie und opportunistischen Infektionen |
| es | Inmunodeficiencia combinada con hipo/agammaglobulinemia e infecciones oportunistas | CID por una variante multimórfica de IRF4 · IDC por una variante multimórfica de IRF4 · CID con hipo/agammaglobulinemia e infecciones oportunistas · IDC con hipo/agammaglobulinemia e infecciones oportunistas |
| it | Immunodeficienza combinata con ipo/agammaglobulinemia e infezioni opportunistiche | CID IRF4 polimorfa · CID da mutazione polimorfa di IRF4 · CID con ipo/agammaglobulinemia e infezioni opportunistiche |
| nl | Gecombineerde immuundeficiëntie met hypo/agammaglobulinemie en opportunistische infecties | CID door multimorf IRF4 · CID door multimorfe variant van IRF4 · CID met hypo/agammaglobulinemie en opportunistische infecties |
| pt | Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections | |
| pl | Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections | = en |
| cs | Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621097 | NTBT | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRF4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6119 | ENSG00000137265 | 601900 | 6p25.3 | interferon regulatory factor 4 | 36662884[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/726442
- This record as JSON: /data/d/726442.json