ORPHA:420699
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in <i>CXCR2</i>.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency | |
| fr | Neutropénie congénitale sévère autosomique récessive par déficit en CXCR2 | |
| de | Neutropenie, kongenitale schwere, autosomal-rezessive, durch CXCR2-Mangel | |
| es | Neutropenia congénita grave autosómica recesiva por deficiencia en CXCR2 | |
| it | Neutropenia congenita grave, autosomica recessiva, da deficit di CXCR2 | |
| nl | Autosomaal recessieve ernstige congenitale neutropenie door CXCR2-deficiëntie | |
| pt | Neutropenia congénita grave autossómica recessiva por deficiência de CXCR2 | |
| pl | Autosomalna recesywna ciężka wrodzona neutropenia z powodu niedoboru CXCR2 | |
| cs | Autozomálně recesivní těžká vrozená neutropenie způsobená deficitem CXCR2 | |
| uk | Аутосомно-рецесивна тяжка вроджена нейтропенія, зумовлена дефіцитом CXCR2 | |
| zh | CXCR2缺陷所致的常染色体隐性遗传性先天性中性粒细胞减少症 | |
| tr | CXCR2 eksikliğine bağlı otozomal resesif ağır doğumsal nötropeni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619407 | E | validated | |
| ICD-10 | D70 | NTBT | attributed | validated |
| MONDO | 0018487 | E | validated | |
| UMLS | C5190862 | E | 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:439849Autosomal recessive severe congenital neutropenia
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 |
|---|---|---|---|---|---|---|---|---|
| CXCR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6027 | ENSG00000180871 | 146928 | 2q35 | C-X-C motif chemokine receptor 2 | 24777453[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24777453[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24777453[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.
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/420699
- This record as JSON: /data/d/420699.json