ORPHA:169160
T-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiency
Synonyms: T-B+NK+ SCID due to CD3delta/CD3epsilon/CD3zeta deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiency | T-B+NK+ SCID due to CD3delta/CD3epsilon/CD3zeta deficiency |
| fr | Déficit immunitaire combiné sévère T-B+NK+ par déficit en CD3delta/epsilon/zêta | DICS T-B+NK+ par déficit en CD3delta/epsilon/zêta · IDCS T-B+NK+ par déficit en CD3delta/epsilon/zêta · Immunodéficience combinée sévère T-B+NK+ par déficit en CD3delta/epsilon/zêta · SCID T-B+NK+ par déficit en CD3delta/epsilon/zêta |
| de | Immundefekt, kombinierter schwerer, T-B+NK+, durch CD3delta/CD3epsilon/CD3zeta-Mangel | T-B+NK+ SCID durch CD3delta/CD3epsilon/CD3zeta-Defizienz |
| es | Inmunodeficiencia combinada grave T-B+NK+ por CD3delta/CD3epsilon/CD3zeta | IDCG T-B+NK+ por CD3delta/CD3epsilon/CD3zeta · SCID T-B+NK+ por CD3delta/CD3epsilon/CD3zeta |
| it | Immunodeficienza combinata grave T-B+NK+ da deficit di CD3delta/CD3epsilon/CD3zeta | SCID T-B+NK+ da deficit di CD3delta/CD3epsilon/CD3zeta |
| nl | T-B+NK+ ernstige gecombineerde immuundeficiëntie door CD3delta/CD3epsilon/CD3zeta | T-B+NK+ SCID door CD3delta/CD3epsilon/CD3zeta |
| pt | Imunodeficiência combinada grave T-B+ por deficiência de CD3 delta/CD3 epsilon/CD3 zeta | |
| pl | Ciężki złożony Niedobór odporności T-B+ z powodu CD3delta/CD3epsilon/CD3zeta | T-B+ SCID z powodu CD3delta/CD3epsilon/CD3zeta |
| cs | T-B+ těžká kombinovaná imunodeficience způsobená CD3delta/CD3epsilon/CD3zeta | T-B+ SCID způsobená CD3delta/CD3epsilon/CD3zeta |
| uk | Т-В+ важкий комбінований імунодефіцит, зумовлений CD3delta/CD3epsilon/CD3zeta | Т-В+ SCID через CD3delta/CD3epsilon/CD3zeta |
| zh | CD3δ/CD3ε/CD3ζ缺乏所致T-B+重症联合免疫缺陷 | CD3β/CD3ε/CD3ζ缺乏所致T-B+ SCID |
| tr | CD3delta / CD3epsilon / CD3zeta'ya bağlı T-B + ağır kombine immün yetmezlik | CD3delta/CD3epsilon/CD3zetaya bağlı T-B + SCID |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610163 | BTNT | validated | |
| OMIM | 615615 | BTNT | validated | |
| OMIM | 615617 | BTNT | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0015703 | E | validated | |
| UMLS | C5679578 | 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 (1):
- ORPHA:720280T-B+NK+ severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD247 | Disease-causing germline mutation(s) in | Assessed | HGNC:1677 | ENSG00000198821 | 186780 | 1q24.2 | CD247 molecule | |
| CD3D | Disease-causing germline mutation(s) in | Assessed | HGNC:1673 | ENSG00000167286 | 186790 | 11q23.3 | CD3 delta subunit of T-cell receptor complex | |
| CD3E | Disease-causing germline mutation(s) in | Assessed | HGNC:1674 | ENSG00000198851 | 186830 | 11q23.3 | CD3 epsilon subunit of T-cell receptor complex |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | 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.
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HPO phenotypes
23 annotations · validated 2019-09-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002719 | Recurrent infections | |
| Frequent (79-30%) | ||
| HP:0004315 | Decreased circulating IgG level | |
| HP:0003460 | Decreased circulating total IgA | |
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen | |
| HP:0045080 | Decreased proportion of CD3-positive T cells | |
| HP:0008866 | Failure to thrive secondary to recurrent infections | |
| HP:0001945 | Fever | |
| HP:0001888 | Lymphopenia | |
| Occasional (29-5%) | ||
| HP:0002039 | Anorexia | |
| HP:0009098 | Chronic oral candidiasis | |
| HP:0002014 | Diarrhea | |
| HP:0001019 | Erythroderma | |
| HP:0012115 | Hepatitis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0000388 | Otitis media | |
| HP:0002090 | Pneumonia | |
| HP:0004385 | Protracted diarrhea | |
| HP:0002722 | Recurrent abscess formation | |
| HP:0005401 | Recurrent candida infections | |
| HP:0005353 | Recurrent herpes | |
| HP:0006532 | Recurrent pneumonia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21883749[PMID]_16672702[PMID]_26235889[PMID]_15546002[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169160
- This record as JSON: /data/d/169160.json