Information on SCID14
Name: LIG4 syndrome | Acronym: SCID14
Alt. names: DNA ligase IV deficiency
Gene: LIG4 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-08-25 10:34:50 by Andrés Caballero-Oteyza
Description
This condition, first described in 2001 (PMID: 11779494), is characterized by pancytopenia and immunodeficiency combined with unusual facial features, microcephaly, and developmental and growth delay. The clinical phenotype resembles the phenotype of the Nijmegen breakage syndrome. Patients presenting with acute T-cell leukemia have also been reported (PMID: 16088910). However, patients without dysmorphic features or neurologic abnormalities have also been reported (PMID: 16357942). This patient, reported Van der Burg et al. (2006), had severe combined immunodeficiency with sensitivity to ioninzing radiation characterized by low immunoglobulin levels, reduced B and T cell counts, but normal NK cell levels.
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Microcephaly |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Pancytopenia |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 3 | Cutaneous photosensitivity |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 4 | Hypothyroidism |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 5 | Acute lymphoblastic leukemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Asthma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Astigmatism |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Brachycephaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Chronic sinusitis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 10 | Clinodactyly of the 5th finger |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Cryptorchidism |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Epicanthus |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Global developmental delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Low anterior hairline |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Micropenis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Narrow forehead |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Plantar warts |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 18 | Prominent nose |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Psoriasiform dermatitis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 20 | Recurrent respiratory infections |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 21 | Small for gestational age |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 22 | Telangiectasia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 23 | Type II diabetes mellitus |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 24 | Upslanted palpebral fissure |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 25 | Wide nasal bridge |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).