T-cell immunodeficiency with thymic aplasia
Synonyms: Isolated aplasia/hypoplasia of the thymus · Isolated congenital athymia · Isolated congenital thymic aplasia/hypoplasia · Isolated thymic defect due to thymic aplasia/hypoplasia · Nezelof syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-cell immunodeficiency with thymic aplasia | Isolated aplasia/hypoplasia of the thymus · Isolated congenital athymia · Isolated congenital thymic aplasia/hypoplasia · Isolated thymic defect due to thymic aplasia/hypoplasia · Nezelof syndrome |
| fr | Déficit immunitaire en lymphocytes T avec aplasie du thymus | Anomalie thymique isolée due à une aplasie/hypoplasie thymique · Aplasie/hypoplasie isolée du thymus · Aplasie/hypoplasie thymique congénitale isolée · Athymie congénitale isolée · Syndrome de Nezelof |
| de | T-Zell-Immundefekt mit Thymusaplasie | Isolierte Aplasie/Hypoplasie des Thymus · Isolierte angeborene Thymusaplasie/Hypoplasie · Isolierte kongenitale Athymie · Isolierter Thymusdefekt aufgrund von Thymusaplasie/Hypoplasie · Nezelof-Syndrom · TIDTA |
| es | Inmunodeficiencia de células T con aplasia tímica | Aplasia/hipoplasia aislada del timo · Aplasia/hipoplasia tímica congénita aislada · Atimia congénita aislada · Defecto tímico aislado debido a aplasia/hipoplasia del timo · Síndrome de Nezelof |
| it | Immunodeficienza dei linfociti T con aplasia del timo | Aplasia/ipoplasia congenita isolata del timo · Difetto isolato del timo da aplasia/ipoplasia timica · Sindrome di Nezelof · Aplasia/ipoplasia isolata del timo · Atimia congenita isolata |
| nl | T-cel-immuundeficiëntie met aplasie van thymus | Geïsoleerd thymusdefect door aplasie/hypoplasie van thymus · Geïsoleerde aplasie/hypoplasie van thymus · Geïsoleerde congenitale aplasie/hypoplasie van thymus · Geïsoleerde congenitale athymie · Syndroom van Nezelof |
| pt | Imunodeficiência de células T por aplasia do timo | Síndrome Nezelof · TIDTA |
| pl | Aplazja grasicy | Zespół Nezelofa · Niedobór odporności zależnej od limfocytów T z aplazją grasicy |
| cs | Aplázie thymu | Nezelofův syndrom |
| uk | Т-клітинний імунодефіцит з аплазією тимуса | Синдром Незелофа · TIDTA |
| zh | 胸腺发育不全 | Nezelof综合征 |
| tr | Timik aplazi | Nezelof sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 242700 | E | validated | |
| ICD-10 | D81.4 | E | specific | validated |
| MONDO | 0009451 | E | validated | |
| MeSH | C536288 | E | validated | |
| UMLS | C0152094 | 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:179006Primary immunodeficiency due to a defect in adaptive immunity
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXN1 | Disease-causing germline mutation(s) in | Not yet assessed | HGNC:12765 | ENSG00000109101 | 600838 | 17q11.2 | forkhead box N1 | 31566583[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
36 annotations · validated 2021-10-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0005359 | Aplasia of the thymus | |
| Very frequent (99-80%) | ||
| HP:0005374 | Cellular immunodeficiency | |
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen | |
| HP:0005403 | Decreased total T cell count | |
| HP:0002719 | Recurrent infections | |
| HP:0031397 | Reduced proportion of naive T cells | |
| HP:0005352 | Severe T-cell immunodeficiency | |
| Frequent (79-30%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0001508 | Failure to thrive | |
| HP:0031690 | Opportunistic infection | |
| HP:0002090 | Pneumonia | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0004798 | Recurrent infection of the gastrointestinal tract | |
| HP:0032169 | Severe infection | |
| HP:0031691 | Severe viral infection | |
| Occasional (29-5%) | ||
| HP:0200122 | Atypical or prolonged hepatitis | |
| HP:0009098 | Chronic oral candidiasis | |
| HP:0000389 | Chronic otitis media | |
| HP:0005387 | Combined immunodeficiency | |
| HP:0004844 | Coombs-positive hemolytic anemia | |
| HP:0002014 | Diarrhea | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0000821 | Hypothyroidism | |
| HP:0020101 | Invasive fungal infection | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002024 | Malabsorption | |
| HP:0001287 | Meningitis | |
| HP:0031430 | Oligoclonal T cell expansion | |
| HP:0002726 | Recurrent Staphylococcus aureus infections | |
| HP:0005401 | Recurrent candida infections | |
| HP:0005366 | Recurrent streptococcus pneumoniae infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0100806 | Sepsis | |
| HP:0000246 | Sinusitis | |
| HP:0100646 | Thyroiditis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 32922396[PMID]_33987750[PMID]_29763203[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83471
- This record as JSON: /data/d/83471.json