ORPHA:275
T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency
Synonyms: SCID T-B-NK+ due to ARTEMIS deficiency · SCID T-B-NK+ due to DCLRE1C deficiency · SCID T-B-NK+, Athabascan type · SCID T-B-NK+, Athabaskan type · T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency · T-B-NK+ severe combined immunodeficiency, Athabascan type · T-B-NK+ severe combined immunodeficiency, Athabaskan type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency | SCID T-B-NK+ due to ARTEMIS deficiency · SCID T-B-NK+ due to DCLRE1C deficiency · SCID T-B-NK+, Athabascan type · SCID T-B-NK+, Athabaskan type · T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency · T-B-NK+ severe combined immunodeficiency, Athabascan type · T-B-NK+ severe combined immunodeficiency, Athabaskan type |
| fr | Déficit immunitaire combiné sévère T-B-NK+ type alymphocytosique | DICS T-B-NK+ par déficit en ARTEMIS · DICS T-B-NK+ type Athabascan · DICS T-B-NK+ type alymphocytose · Déficit immunitaire combiné sévère T-B-NK+ type Athabascan · IDCS T-B-NK+ type Athabascan · IDCS T-B-NK+ type alymphocytose · SCID T-B-NK+ par déficit en ARTEMIS · SCID T-B-NK+ type Athabascan · SCID T-B-NK+ type alymphocytose |
| de | Immundefekt, kombinierter schwerer, T-B-NK+, durch DCLRE1C-Mangel | T-B-NK+ SCID vom Athabasken-Typ · T-B-NK+ SCID durch ARTEMIS-Defizienz · T-B-NK+ SCID durch DCLRE1C-Defizienz · Immundefekt, kombinierter schwerer, T-B-NK+, Athabasken-Typ · Immundefekt, kombinierter schwerer, T-B-NK+, durch ARTEMIS-Mangel |
| es | Inmunodeficiencia combinada grave T-B-NK+ por deficiencia de DCLRE1C | IDCG T-B-NK+ por deficiencia de ARTEMIS · SCID T-B-NK+ por deficiencia de ARTEMIS · IDCG T-B-NK+ por deficiencia de DCLRE1C · SCID T-B-NK+ por deficiencia de DCLRE1C · IDCG T-B-NK+, tipo Athabascan · SCID T-B-NK+, tipo Athabascan · IDCG T-B-NK+, tipo Athabaskan · SCID T-B-NK+, tipo Athabaskan · Inmunodeficiencia combinada grave T-B-NK+ por deficiencia de ARTEMIS · Inmunodeficiencia combinada grave T-B-NK+ tipo Athabascan · Inmunodeficiencia combinada grave T-B-NK+ tipo Athabaskan |
| it | Immunodeficienza combinata grave T-B-NK+ da deficit di DCLRE1C | Immunodeficienza combinata grave T-B-NK+, tipo Athabascan · Immunodeficienza combinata grave T-B-NK+, tipo Athabaskan · Immunodeficienza da deficit di ARTEMIS · SCID T-B-NK+, tipo Athabascan · SCID T-B-NK+, tipo Athabaskan · SCID T-B-NK+ da deficit di ARTEMIS · SCID T-B-NK+ da deficit di DCLRE1C |
| nl | T-B-NK+ ernstige gecombineerde immuundeficiëntie door DCLRE1C-deficiëntie | SCID T-B-NK+ door ARTEMIS-deficiëntie · SCID T-B-NK+ door DCLRE1C-deficiëntie · SCID T-B-NK+, Athabaskisch type · T-B-NK+ ernstige gecombineerde immuundeficiëntie door ARTEMIS-deficiëntie · T-B-NK+ ernstige gecombineerde immuundeficiëntie, Athabaskisch type |
| pt | Imunodeficiência combinada grave T-B-NK+ por deficiência de DCLRE1C | Agamaglobulinemia, tipo alinfocítico · Imunodeficiência combinada grave, tipo alinfocítico |
| pl | Ciężki złożony niedobór odporności z powodu niedoboru DCLRE1C | SCID, typ atabaskański · SCID, typ atapaskański · SCID z powodu niedoboru ARTEMIS · SCID z powodu niedoboru DCLRE1C · Ciężki złożony niedobór odporności, typ atabaskański · Ciężki złożony niedobór odporności, typ atapaskański · Ciężki złożony niedobór odporności z powodu niedoboru ARTEMIS |
| cs | Těžká kombinovaná imunodeficience způsobená deficitem DCLRE1C | Athabaskan SCID · SCID způsobená deficitem DCLRE1C · SCID způsobená mutací v genu artemis · Těžká kombinovaná imunodeficience způsobená mutací v genu artemis · Těžká kombinovaná imunodeficience, Athabaskan typ |
| uk | Тяжкий комбінований імунодефіцит, зумовлений дефіцитом DCLRE1C | ТКІД через дефіцит АРТЕМІСУ · ТКІД внаслідок дефіциту DCLRE1C · ТКІД, атабаський тип · ТКІД, атабаський тип · Тяжкий комбінований імунодефіцит, спричинений дефіцитом АРТЕМІС · Тяжкий комбінований імунодефіцит, тип Атабаскан · Тяжкий комбінований імунодефіцит, атабаський тип |
| zh | DCLRE1C缺陷所致重症联合免疫缺陷 | ARTEMIS缺乏所致重症联合免疫缺陷 |
| tr | DCLRE1C eksikliğine bağlı ağır kombine immün yetmezlik | SCID, Athabascan türü · SCID, Athabaskan türü · ARTEMIS eksikliğine bağlı SCID · DCLRE1C eksikliğine bağlı SCID · Ağır kombine immün yetmezlik, Athabascan tipi · Ağır kombine immün yetmezlik, Athabaskan tipi · ARTEMIS eksikliğine bağlı ağır kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602450 | NTBT | validated | |
| ICD-10 | D81.1 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0011225 | E | validated | |
| MeSH | C536786 | E | validated | |
| UMLS | C1865371 | E | validated | |
| GARD | 9987 | 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:720314T-B-NK+ severe combined immunodeficiency without microcephaly
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 |
|---|---|---|---|---|---|---|---|---|
| DCLRE1C | Disease-causing germline mutation(s) in | Assessed | HGNC:17642 | ENSG00000152457 | 605988 | 10p13 | DNA cross-link repair 1C | 12055248[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
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
28 annotations · validated 2025-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010976 | Decreased total B cell count | |
| HP:0005403 | Decreased total T cell count | |
| Frequent (79-30%) | ||
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0002110 | Bronchiectasis | |
| HP:0031292 | Cutaneous abscess | |
| HP:6000070 | Cutaneous granuloma | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0005390 | Recurrent opportunistic infections | |
| HP:0200117 | Recurrent upper and lower respiratory tract infections | |
| HP:0200043 | Verrucae | |
| Occasional (29-5%) | ||
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0002960 | Autoimmunity | |
| HP:0009098 | Chronic oral candidiasis | |
| HP:0045080 | Decreased proportion of CD3-positive T cells | |
| HP:0001508 | Failure to thrive | |
| HP:0002041 | Intractable diarrhea | |
| HP:0005681 | Juvenile rheumatoid arthritis | |
| HP:0002664 | Neoplasm | |
| HP:0000388 | Otitis media | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| HP:0031123 | Recurrent gastroenteritis | |
| HP:0011274 | Recurrent mycobacterial infections | |
| HP:0004429 | Recurrent viral infections | |
| HP:0000988 | Skin rash | |
| HP:0001045 | Vitiligo | |
| Very rare (<4-1%) | ||
| HP:0000872 | Hashimoto thyroiditis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 39425552[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275
- This record as JSON: /data/d/275.json