ORPHA:169095
T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency
Synonyms: T-B+NK+ SCID due to FOXN1 deficiency · Alymphoid cystic thymic dysgenesis · Nude/SCID · Nude/severe combined immunodeficiency · Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome · Winged helix deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency | T-B+NK+ SCID due to FOXN1 deficiency · Alymphoid cystic thymic dysgenesis · Nude/SCID · Nude/severe combined immunodeficiency · Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome · Winged helix deficiency |
| fr | Déficit immunitaire combiné sévère T-B+NK+ par déficit en FOXN1 | Immunodéficience combinée sévère T-B+NK+ par déficit en FOXN1 · DICS T-B+NK+ par déficit en FOXN1 · Dysgénésie kystique alymphoïde du thymus · Syndrome d'immunodéficience sévère à cellules T-alopécie congénitale-dystrophie des ongles · Syndrome de déficit immunitaire sévère à cellules T-alopécie congénitale-dystrophie des ongles · SCID T-B+NK+ par déficit en FOXN1 |
| de | Immundefekt, kombinierter schwerer, durch FOXN1-Defizienz | Schwerer T-Zell-Immundefekt-kongenitale Alopezie-Nageldystrophie-Syndrom · Winged-Helix-Defekt · Winged-Helix-Nude-Defekt · Alymphoide zystische Thymus-Dysgenesie · Nude/SCID · SCID durch FOXN1-Mangel |
| es | Inmunodeficiencia combinada grave por deficiencia de FOXN1 | Deficiencia de la hélice alada · Disgenesia quística alinfoide del timo · IDCG por deficiencia de FOXN1 · IDCG/linfocito desnudo · Inmunodeficiencia combinada grave/linfocito desnudo · Nude/SCID · SCID por deficiencia de FOXN1 · Síndrome de inmunodeficiencia grave de linfocitos T-alopecia congénita-distrofia ungueal |
| it | Immunodeficienza combinata grave da deficit di FOXN1 | Deficit "winged helix" · Deficit 'winged helix' · Disgenesia timica cistica alinfoide · SCID/nuda · Immunodeficienza combinata grave nuda · SCID da deficit di FOXN1 · Sindrome immunodeficienza grave delle cellule T-alopecia congenita-distrofia ungueale · Disgenesia alinfoide cistica del timo |
| nl | Ernstige gecombineerde immuundeficiëntie door FOXN1-deficiëntie | Alymfoïde cystische thymusdysgenesie · Ernstige T-cel-immuundeficiëntie - congenitale alopecie - nageldystrofie-syndroom · Naakte/SCID · Naakte/ernstige gecombineerde immuundeficiëntie · SCID door FOXN1-deficiëntie · Winged helix-deficiëntie |
| pt | Imunodeficiência combinada grave por deficiência de FOXN1 | Imunodeficiência grave de células T-alopecia congénita-distrofia das unhas |
| pl | Ciężki złożony niedobór odporności spowodowany niedoborem FOXN1 | Ciężki Niedobór odporności T-komórkowej - łysienie wrodzone - dystrofia paznokci · Niedobór skrzydlatej helisy |
| cs | Nelymfoidní cystická dysgeneze brzlíku | Deficience Winged Helix Nude · Syndrom zahrnující těžkou T-buněčnou imunodeficienci, vrozenou alopecii a dystrofii nehtů |
| uk | Тяжкий комбінований імунодефіцит, зумовлений дефіцитом FOXN1 | Алімфоїдно-кістозна дисгенезія тимуса · Nude/SCID · Виражений/тяжкий комбінований імунодефіцит · ТКІД внаслідок дефіциту FOXN1 · Синдром тяжкого Т-клітинного імунодефіциту - вродженої алопеції та дистрофії нігтів · Дефіцит крилатої спіралі |
| zh | FOXN1缺乏所致重度联合免疫缺陷 | 严重T细胞免疫缺陷-先天性秃发-甲营养不良综合征 |
| tr | FOXN1 eksikliğine bağlı ağır kombine immün yetmezlik | Çıplak/SCID · Hızlı sarmal eksikliği · FOXN1 eksikliğine bağlı SCID · Alymphoid kistik timik disgenezi · Çıplak/ağır kombine immün yetmezlik · Ağır T hücre immün yetmezlik-doğumsal alopesi-tırnak distrofi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601705 | E | validated | |
| ICD-10 | D82.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0011132 | E | validated | |
| MONDO | 11132 | E | validated | |
| MeSH | C536781 | E | validated | |
| UMLS | C1866426 | E | validated | |
| GARD | 4358 | 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 (2):
- ORPHA:331220Syndome with combined immunodeficiency due to thymic defect
rare genetic diseases; rare immunological diseases - ORPHA:720280T-B+NK+ severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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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 | 10206641[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 28077132[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28077132[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005597 | Congenital alopecia totalis | |
| HP:0005403 | Decreased total T cell count | |
| HP:0002721 | Immunodeficiency | |
| HP:0001803 | Nail pits | |
| HP:0001807 | Ridged nail | |
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/169095
- This record as JSON: /data/d/169095.json