ORPHA:35078
T-B+NK- severe combined immunodeficiency due to JAK3 deficiency
Synonyms: T-B+NK- SCID due to JAK3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with 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 JAK3 deficiency | T-B+NK- SCID due to JAK3 deficiency |
| fr | Déficit immunitaire combiné sévère T-B+NK- par déficit en JAK3 | DICS T-B+NK- par déficit en JAK3 · ICDS T-B+NK- par déficit en JAK3 · Immunodéficience combinée sévère T-B+NK- par déficit en JAK3 · SCID T-B+NK- par déficit en JAK3 |
| de | Immundefekt, kombinierter schwerer, T-B+NK-, durch JAK3-Mangel | T-B+NK- SCID durch JAK3-Defizienz · SCID durch JAK3-Defekt |
| es | Inmunodeficiencia combinada grave T-B+NK- por deficiencia de JAK3 | SCID T-B+NK- por deficiencia de JAK3 · IDCG T-B+NK- por deficiencia de JAK3 |
| it | Immunodeficienza combinata grave T-B+ da deficit di JAK3 | SCID T-B+ da deficit di JAK3 |
| nl | T-B+NK- ernstige gecombineerde immuundeficiëntie door JAK3-deficiëntie | T-B+NK- SCID door JAK3-deficiëntie |
| pt | Imunodeficiência combinada grave T-B+ por deficiência de JAK3 | |
| pl | Ciężki złożony Niedobór odporności T-B+ z powodu niedoboru JAK3 | T-B+ SCID z powodu niedoboru JAK3 |
| cs | Těžká kombinovaná imunodeficience T-B+ způsobená deficitem JAK3 | T-B+ SCID způsobený deficitem JAK3 |
| uk | Т-В+ тяжкий комбінований імунодефіцит, зумовлений дефіцитом JAK3 | Т-В+ ТКІД через дефіцит JAK3 |
| zh | JAK3缺乏所致重症T-B+免疫缺陷 | JAK3缺乏所致T-B+SCID |
| tr | JAK3 eksikliğine bağlı T-B + ağır kombine immün yetmezlik | JAK3 eksikliği nedeniyle T-B + SCID |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600802 | E | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0010938 | E | validated | |
| UMLS | C1833275 | 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:720287T-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 |
|---|---|---|---|---|---|---|---|---|
| JAK3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6193 | ENSG00000105639 | 600173 | 19p13.11 | Janus kinase 3 |
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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.
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HPO phenotypes
25 annotations · validated 2019-05-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen | |
| HP:0005403 | Decreased total T cell count | |
| HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | |
| HP:0005354 | Lack of T cell function | |
| Frequent (79-30%) | ||
| HP:0040219 | Absent natural killer cells | |
| HP:0002028 | Chronic diarrhea | |
| HP:0009098 | Chronic oral candidiasis | |
| HP:0001888 | Lymphopenia | |
| HP:0005390 | Recurrent opportunistic infections | |
| HP:0002205 | Recurrent respiratory infections | |
| Occasional (29-5%) | ||
| HP:0000371 | Acute otitis media | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0010976 | Decreased total B cell count | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0011837 | Partial IgA deficiency | |
| HP:0200039 | Pustule | |
| HP:0004798 | Recurrent infection of the gastrointestinal tract | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0004429 | Recurrent viral infections | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000143 | Rectovaginal fistula | |
| HP:0000988 | Skin rash | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26769277[PMID]_11668610[PMID]_14615376[PMID]_30778343[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35078
- This record as JSON: /data/d/35078.json