Neonatal alloimmune neutropenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal alloimmune neutropenia | |
| fr | Neutropénie néonatale allo-immune | |
| de | Neonatale Alloimmunneutropenie | |
| es | Neutropenia aloinmune neonatal | |
| it | Neutropenia alloimmune neonatale | |
| nl | Neonatale allo-immune neutropenie | |
| pt | Neutropenia neonatal aloimune | |
| pl | Alloimmunologiczna neutropenia noworodków | |
| cs | Neonatální aloimunní neutropenie | |
| uk | Неонатальна алергічна нейтропенія | |
| zh | 新生儿同种免疫中性粒细胞减少 | |
| tr | Yenidoğan alloimmün nötropeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P61.5 | NTBT | attributed | validated |
| ICD-11 | KA8E | E | specific | validated |
| MONDO | 0018739 | E | validated | |
| UMLS | C0272176 | 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:178996Acquired neutropenia
rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FCGR3B | Biomarker tested in | Assessed | HGNC:3620 | ENSG00000162747 | 610665 | 1q23.3 | Fc fragment of IgG receptor IIIb |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 16.6 / 100 000 | Poland | Value and class | Validated | 11696231[PMID] |
| Point prevalence | Unknown | — | Europe | 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.
HPO phenotypes
12 annotations · validated 2021-05-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| Frequent (79-30%) | ||
| HP:0002090 | Pneumonia | |
| HP:0032169 | Severe infection | |
| Occasional (29-5%) | ||
| HP:0001945 | Fever | |
| HP:0000952 | Jaundice | |
| HP:0009800 | Maternal diabetes | |
| HP:0001287 | Meningitis | |
| HP:0032435 | Neonatal omphalitis | |
| HP:0100806 | Sepsis | |
| HP:0005268 | Spontaneous abortion | |
| HP:0005968 | Temperature instability | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32422924[PMID]_31049048[PMID]_31858675[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464370
- This record as JSON: /data/d/464370.json