Severe combined immunodeficiency due to DCLRE1C deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: SCIDA, INCLUDED
ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL, INCLUDED
SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED
RS-SCID
Severe combined immunodeficiency, Athabaskan type
Severe combined immunodeficiency due to artemis deficiency
SCID, Athabaskan type
SCID due to artemis deficiency
SCID due to DCLRE1C deficiency
Number of Symptoms 16
OrphanetNr: 275
OMIM Id: 602450
ICD-10: D81.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: T-B- severe combined immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0003249) Genital ulcers 2 / 7739
2
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
3
 (HPO:0000155) Oral ulcer 9 / 7739
4
 (HPO:0000388) Otitis media 28 / 7739
5
 (HPO:0002014) Diarrhea 225 / 7739
6
 (HPO:0001508) Failure to thrive 454 / 7739
7
 (HPO:0003139) Panhypogammaglobulinemia 6 / 7739
8
 (HPO:0002090) Pneumonia 59 / 7739
9
 (HPO:0002732) Lymph node hypoplasia 3 / 7739
10
 (HPO:0005359) Aplasia of the thymus 6 / 7739
11
 (HPO:0004430) Severe combined immunodeficiency 16 / 7739
12
 (OMIM) Reduced/absent CD3+ T cells 1 / 7739
13
 (OMIM) Absent tonsils 2 / 7739
14
 (OMIM) Absent thymus 2 / 7739
15
 (OMIM) Very low lymphocyte proliferation in response to mitogens and alloantigens 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schwarz et al. (1991) found that a subset of cells from T-, B- SCID patients showed increased radiosensitivity. Nicolas et al. (1998) reported 3 sibs, born of consanguineous parents, and 1 unrelated patient with T-, B- SCID whose ...
Molecular genetics OMIM In 13 patients from 11 families with RS-SCID, Moshous et al. (2001) identified 8 different mutations in the Artemis gene (605988.0001-605988.0008).

- Athabaskan-type SCID

Li et al. (2002) identified a founder mutation in exon ...
Population genetics OMIM Murphy et al. (1980) reported a high frequency of T-, B- SCID in the Navajo and Jicarilla Apache Indians of the U.S. Southwest, who belong to the Athabascan linguistic group. Based on birth rates and population numbers, the ...