Information on Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS)
Basic details
Name: Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) | Acronym:
Alt. names:
Gene: NSMCE3 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have been described with severe and early-onset infections, and early awareness may allow preventive measures and early and aggressive treatment of infections. Refs. PMIDs: 27427983
Management
Description of management option has not been reviewed yet.
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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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Failure to thrive in infancy |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased proportion of CD4 Th cells |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced proportion of CD8 T cells |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Thymus hypoplasia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Increased IgM levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Reduced delayed hypersensitivity |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Cerebral calcification |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Eczema |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 9 | Wide anterior fontanel |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 10 | Muscular hypotonia of the trunk |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 11 | Bronchiolitis Obliterans |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Depressed nasal bridge |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 13 | Hypertelorism |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 14 | Increased IgE levels |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 15 | Increased sensitivity to ionizing radiation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Midface retrusion |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 17 | Small for gestational age |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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.