Combined immunodeficiency due to FOXN1 haploinsufficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare non-severe combined immunodeficiency characterized by decreased numbers of T cells (particularly CD8+ T cells) and increased susceptibility to recurrent infections with variable severity (predominantly respiratory viral infections). Additional features may include thymic aplasia/hypoplasia, skin abnormalities including atopic dermatitis, hair loss and nail dystrophy. Symptoms may vary among patients (some patients may develop serious infections) and may ameliorate by age.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to FOXN1 haploinsufficiency | |
| fr | Déficit immunitaire combiné par haploinsuffisance en FOXN1 | |
| de | Kombinierter Immundefekt durch FOXN1-Haploinsuffizienz | |
| es | Inmunodeficiencia combinada por haploinsuficiencia del gen FOXN1 | |
| it | Immunodeficienza combinata da aploinsufficienza di FOXN1 | |
| nl | Gecombineerde immuundeficiëntie door FOXN1-haploinsufficiëntie | |
| pt | Imunodeficiência combinada por haploinsuficiência FOXN1 | |
| pl | Skojarzony niedobór odporności spowodowany haploinsufficiencją FOXN1 | |
| cs | Kombinovaná imunodeficience způsobená haploinsuficiencí FOXN1 | |
| uk | Комбінований імунодефіцит, зумовлений гаплонедостатністю FOXN1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618806 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| MONDO | 32928 | E | validated | |
| UMLS | C5925099 | 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:480549Non-severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12765 | ENSG00000109101 | 600838 | 17q11.2 | forkhead box N1 | 31447097[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 31447097[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31447097[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/676039
- This record as JSON: /data/d/676039.json