ORPHA:169154
T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Synonyms: T-B+NK+ SCID due to IL-7Ralpha deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency | T-B+NK+ SCID due to IL-7Ralpha deficiency |
| fr | Déficit immunitaire combiné sévère T-B+NK+ par déficit en IL-7Ralpha | Immunodéficience combinée sévère T-B+NK+ due à un déficit en IL-7Ralpha · SCID T-B+NK+ par déficit en IL-7Ralpha · DICS T-B+NK+ par déficit en IL-7Ralpha · IDCS T-B+NK+ par déficit en IL-7Ralpha |
| de | Immundefekt, kombinierter schwerer, T-B+NK+, durch IL-7Ralpha-Mangel | T-B+NK+ SCID durch IL-7Ralpha-Mangel |
| es | Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de IL-7Ralpha | IDCG T-B+NK+ por deficiencia de IL-7Ralpha · SCID T-B+NK+ por deficiencia de IL-7Ralpha |
| it | Immunodeficienza combinata grave T-B+NK+ da deficit di IL-7Ralfa | SCID T-B+NK+ SCID da deficit di IL-7Ralfa |
| nl | T-B+NK+ ernstige gecombineerde immuundeficiëntie door IL-7Ralfa-deficiëntie | T-B+NK+ SCID door IL-7Ralfa-deficiëntie |
| pt | Imunodeficiência combinada grave T-B+ por deficiência de IL-7R-alfa | |
| pl | Ciężki złożony Niedobór odporności T-B+ z powodu niedoboru IL-7Ralfa | T-B+ SCID z powodu niedoboru IL-7Ralfa |
| cs | T-B+ těžká kombinovaná imunodeficience způsobená deficitem IL-7R alfa | T-B+ SCID způsobená deficitem IL-7R alfa |
| uk | Т-В+ тяжкий комбінований імунодефіцит, зумовлений дефіцитом IL-7Ralpha | Т-В+ ТКИД внаслідок дефіциту IL-7Ralpha |
| zh | 白细胞介素7受体α缺乏所致T-B+重症联合免疫缺陷 | IL-7α缺陷所致T-B+ SCID |
| tr | IL-7Ralpha eksikliğine bağlı T-B + ağır kombine immün yetmezlik | IL-7Ralpha eksikliğine bağlı T-B + SCID |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608971 | NTBT | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0015701 | E | validated | |
| UMLS | C5679577 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL7R | Disease-causing germline mutation(s) in | Assessed | HGNC:6024 | ENSG00000168685 | 146661 | 5p13.2 | interleukin 7 receptor |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 / 100 000 | Worldwide | Value and class | Validated | 14726805[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | 0.04 / 100 000 | Chile | Value and class | Validated | 33861827[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.
6
HPO phenotypes
29 annotations · validated 2019-09-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002719 | Recurrent infections | |
| Frequent (79-30%) | ||
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen | |
| HP:0045080 | Decreased proportion of CD3-positive T cells | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:0005415 | Decreased proportion of CD8-positive T cells | |
| HP:0005403 | Decreased total T cell count | |
| HP:0001508 | Failure to thrive | |
| HP:0001888 | Lymphopenia | |
| HP:0004429 | Recurrent viral infections | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0002028 | Chronic diarrhea | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001019 | Erythroderma | |
| HP:0001945 | Fever | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0003261 | Increased circulating IgA level | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0003237 | Increased circulating IgG level | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0002716 | Lymphadenopathy | |
| HP:0100827 | Lymphocytosis | |
| HP:0040187 | Neonatal sepsis | |
| HP:0000155 | Oral ulcer | |
| HP:0025526 | Psoriasiform lesion | |
| HP:0005401 | Recurrent candida infections | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 9843216[PMID]_25046553[PMID]_27593400[PMID]_29167666[PMID]_31379863[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169154
- This record as JSON: /data/d/169154.json