ORPHA:70592
Transient predisposition to invasive pyogenic bacterial infection
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transient predisposition to invasive pyogenic bacterial infection | |
| fr | Prédisposition transitoire à une infection bactérienne pyogène invasive | |
| de | Transiente Prädisposition für eine invasive bakterielle Eiterinfektion | IRAK4-Mangel |
| es | Predisposición transitoria a la infección bacteriana piógena invasiva | |
| it | Predisposizione transitoria alle infezioni batteriche piogeniche invasive | |
| nl | Tijdelijke predispositie voor invasieve pyogene bacteriële infectie | IRAK4-deficiëntie · Immuundeficiëntie door IRAK4-deficiëntie · Immuundeficiëntie door MYD88-deficiëntie · Immuundeficiëntie door deficiëntie van MYD88 'innate immune signal transduction adaptor' · Immuundeficiëntie door deficiëntie van interleukine 1-receptorgeassocieerd kinase 4 · MYD88-deficiëntie |
| pt | Imunodeficiência por deficiência de cinase 4 associada ao recetor da interleucina-1 | Deficiência de IRAK4 |
| pl | Przejściowa predyspozycja do inwazyjnych ropnych zakażeń bakteryjnych | Niedobór IRAK4 · Niedobór odporności spowodowany deficytem kinazy-4 związanej z receptorem interleukiny-1 |
| cs | Imunodeficience způsobená deficitem kinázy 4 asociované s receptory interleukinu-1 | Deficit IRAK4 |
| uk | Імунодефіцит, зумовлений дефіцитом інтерлейкін-1 рецептор-асоційованої кінази-4 | Дефіцит IRAK4 |
| zh | 白介素1受体相关激酶4缺乏所致免疫缺陷 | IRAK4缺乏症 |
| tr | İnterlökin-1 reseptör ilişkili kinaz-4 eksikliğine bağlı immün yetmezlik | IRAK4 eksikliği |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607676 | E | validated | |
| OMIM | 612260 | BTNT | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | index | validated |
| MONDO | 0011888 | E | validated | |
| MeSH | C564352 | E | validated | |
| UMLS | C1843256 | E | validated | |
| GARD | 10311 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:183713OBSOLETE: Bacterial susceptibility due to TLR signaling pathway deficiency referred to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRAK4 | Disease-causing germline mutation(s) in | Assessed | HGNC:17967 | ENSG00000198001 | 606883 | 12q12 | interleukin 1 receptor associated kinase 4 | |
| MYD88 | Disease-causing germline mutation(s) in | Assessed | HGNC:7562 | ENSG00000172936 | 602170 | 3p22.2 | MYD88 innate immune signal transduction adaptor | 31301515[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | 21734245[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21734245[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.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002721 | Immunodeficiency | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0007499 | Recurrent staphylococcal infections | |
| HP:0005366 | Recurrent streptococcus pneumoniae infections | |
| Frequent (79-30%) | ||
| HP:0005406 | Recurrent bacterial skin infections | |
| Occasional (29-5%) | ||
| HP:0001945 | Fever | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/70592
- This record as JSON: /data/d/70592.json