Information on SCID13
Basic details
Name: SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | Acronym: SCID13
Alt. names: Cernunnos deficiency | XLF deficiency
Gene: NHEJ1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 2 | First reported in: 2006
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Some individuals may not demonstrate obvious dysmorphic features. Refs. PMIDs: 12604777; 16439204; 16439205; 17191205; 20597108
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
2 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
102814 |
U | 214993 |
1 | U.S.A. | Caucasian | PMID:16439205 [Patient]; PMID:12604777 [2BN(II.1)] | ||
| 102818 |
M | 214993 |
4 | U.S.A. | Caucasian | PMID:12604777 [Fam.2BN:II.2(3BN)] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Decreased IgA levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Lymphopenia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced number of B cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | short stature |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Reduced T cell count |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Leukopenia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Hypogammaglobulinemia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Increased NK cell number |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Decreased IgG levels |
1 (50.0%) | 1 (50.0%) | 0 (0.0%) |
| 10 | Decreased lymphocyte proliferation in response to mitogens |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 11 | Decreased IgM levels |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 12 | Microcephaly |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 13 | Growth delay |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.