LICS
MCID: LNG105
MIFTS: 36

Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (LICS)

Categories: Genetic diseases, Immune diseases, Infectious diseases, Respiratory diseases

Aliases & Classifications for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

MalaCards integrated aliases for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

Name: Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 57 72 29 6
Lics 57 72
Lung Disease, Immunodeficiency, Chromosome Breakage Syndrome 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life
four patients from 2 unrelated families have been reported (last curated december 2016)
death in first years of life


HPO:

31
lung disease, immunodeficiency, and chromosome breakage syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

UniProtKB/Swiss-Prot : 72 Lung disease, immunodeficiency, and chromosome breakage syndrome: An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features.

MalaCards based summary : Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome, also known as lics, is related to lung disease and triiodothyronine receptor auxiliary protein. An important gene associated with Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome is NSMCE3 (NSE3 Homolog, SMC5-SMC6 Complex Component). The drugs Acetaminophen and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and liver, and related phenotypes are cerebral calcification and depressed nasal bridge

OMIM® : 57 LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016). (617241) (Updated 05-Apr-2021)

Related Diseases for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Diseases related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lung disease 29.3 NSMCE3 FAM189A1
2 triiodothyronine receptor auxiliary protein 9.9
3 allergic disease 9.9
4 chromosome 15q13.3 deletion syndrome 9.5 NSMCE3 FAM189A1

Symptoms & Phenotypes for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Human phenotypes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 cerebral calcification 31 very rare (1%) HP:0002514
2 depressed nasal bridge 31 very rare (1%) HP:0005280
3 hypertelorism 31 very rare (1%) HP:0000316
4 failure to thrive in infancy 31 very rare (1%) HP:0001531
5 hypoplasia of the thymus 31 very rare (1%) HP:0000778
6 eczema 31 very rare (1%) HP:0000964
7 midface retrusion 31 very rare (1%) HP:0011800
8 wide anterior fontanel 31 very rare (1%) HP:0000260
9 small for gestational age 31 very rare (1%) HP:0001518
10 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
11 increased circulating igm level 31 very rare (1%) HP:0003496
12 increased sensitivity to ionizing radiation 31 very rare (1%) HP:0011133
13 bronchiolitis obliterans 31 very rare (1%) HP:0011946
14 decreased proportion of cd8-positive t cells 31 very rare (1%) HP:0005415
15 increased circulating ige level 31 very rare (1%) HP:0003212
16 decreased proportion of cd4-positive helper t cells 31 very rare (1%) HP:0005407
17 reduced delayed hypersensitivity 31 very rare (1%) HP:0002972
18 feeding difficulties 31 HP:0011968
19 mild global developmental delay 31 HP:0011342
20 reduced antigen-specific t cell proliferation 31 HP:0031402

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Head And Neck Head:
large anterior fontanel

Immunology:
thymic hypoplasia
decreased numbers of t cells
increased susceptibility to infection
immune dysfunction
decreased t-cell proliferative response
more
Skin Nails Hair Skin:
eczema (family a)

Neurologic Central Nervous System:
psychomotor retardation, mild (family a)

Respiratory Lung:
bronchiolitis obliterans
hyperinflation
interstitial pneumonia
pulmonary disease, rapidly progressive
viral-induced pneumonia
more
Abdomen Gastrointestinal:
poor feeding

Head And Neck Face:
dysmorphic facial features, mild (in some patients)

Muscle Soft Tissue:
axial hypotonia (family a)
subcutaneous emphysema

Laboratory Abnormalities:
karyotyping of peripheral lymphocytes shows multiple de novo supernumerary marker chromosomes and chromosome rearrangements
lymphocytes and fibroblasts show increased sensitivity to ionizing radiation

Clinical features from OMIM®:

617241 (Updated 05-Apr-2021)

Drugs & Therapeutics for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Drugs for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
3 Analgesics, Non-Narcotic Phase 4
4 Analgesics Phase 4
5 Fibrinolytic Agents Phase 4
6 Antirheumatic Agents Phase 4
7 Cyclooxygenase Inhibitors Phase 4
8 Antipyretics Phase 4
9 Platelet Aggregation Inhibitors Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4
12
Iron Approved Phase 3 7439-89-6 23925 29936
13
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381 214348
14 Iron Chelating Agents Phase 3
15 Liver Extracts Phase 3
16 Chelating Agents Phase 3
17
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Double-dummy, Single-dose, Parallel Group, Multicenter Study to Compare the Antipyretic Efficacy of Acetylsalicy-lic Acid 500 mg and 1,000 mg (2 x 500 mg) and Paracetamol 500 mg and 1,000 mg (2 x 500 mg) With Placebo in Patients With Acute Febrile Upper Respiratory Tract Infections Suspected to be of Viral Origin. Completed NCT01464944 Phase 4 Acetylsalicylic acid (Aspirin, BAYE4465);Acetylsalicylic acid (Aspirin, BAYE4465);Paracetamol;Paracetamol;Placebo
2 Clinical Importance of Treating Iron Overload in Sickle Cell Disease Terminated NCT00981370 Phase 3 deferasirox
3 A One Year Open Label, Non-comparative Extension to a Randomized, Multicenter, Phase II Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK) and Effects on Liver Iron Concentration (LIC) of Repeated Doses of 5-30mg/kg/Day ICL670 Relative to Deferoxamine (DFO) in Sickle Cell Disease (SCD) Patients With Transfusional Hemosideresis (THS) [Amendment 3: Extension Prolonged to 4-years] Completed NCT01090323 Phase 2 ICL670
4 A 4-year Extension to a Phase II a Multicenter Study Evaluating Long-term Safety, Tolerability, Pharmacokinetics and Effects on Liver Iron Concentration of Repeated Doses of 10 mg/kg/Day of Deferasirox in Pediatric Patients With Transfusion Dependent β-thalassemia Major. Completed NCT00390858 Phase 2 Deferasirox
5 Iron Overload in Allogeneic Hematopoietic Cell Transplantation Completed NCT00888316
6 Quantitative Susceptibility Mapping (QSM) to Guide Iron Chelating Therapy in Transfusional Iron Overload Recruiting NCT04171635
7 Analysis of Immune Checkpoint Receptors Expression in the LIC Fraction pf AML Cells - ICAML-LIC Recruiting NCT03449745
8 MRI-based Quantitative Susceptibility Mapping of Hepatic Iron Overload Not yet recruiting NCT04631718

Search NIH Clinical Center for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Genetic Tests for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Genetic tests related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

# Genetic test Affiliating Genes
1 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 29 NSMCE3

Anatomical Context for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

MalaCards organs/tissues related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

40
Lung, Myeloid, Liver, T Cells, Thymus, Kidney, Breast

Publications for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Articles related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

(show top 50) (show all 446)
# Title Authors PMID Year
1
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. 57 6
27427983 2016
2
Public-private partnering as a modus operandi: Explaining the Gates Foundation's approach to global health governance. 61
32762617 2021
3
Structure Basis for Shaping the Nse4 Protein by the Nse1 and Nse3 Dimer within the Smc5/6 Complex. 61
33676928 2021
4
New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS). 61
33741030 2021
5
Crystal Phase-Controlled Synthesis of the CoP@Co2P Heterostructure with 3D Nanowire Networks for High-Performance Li-Ion Capacitor Applications. 61
33617222 2021
6
Is patient navigation a solution to the problem of "leaving no one behind"? A scoping review of evidence from low-income countries. 61
33212491 2021
7
Patient perceptions of students in a longitudinal integrated clerkship in Taiwan: a qualitative study. 61
33691688 2021
8
Oxidized-Polydopamine-Coated Graphene Anodes and N,P Codoped Porous Foam Structure Activated Carbon Cathodes for High-Energy-Density Lithium-Ion Capacitors. 61
33599127 2021
9
Development and sustainment of professional relationships within longitudinal integrated clerkships in general practice (LICs): a narrative review. 61
33641086 2021
10
The safe handling of chemotherapy drugs in low- and middle-income countries: An overview of practices. 61
33622088 2021
11
Professional identity formation within longitudinal integrated clerkships: A scoping review. 61
33529395 2021
12
The economic burden of open tibia fractures: A systematic review. 61
33691946 2021
13
Designing, Implementing, and Managing a National Emergency Medical Service in Sierra Leone. 61
33256859 2021
14
Health inequality among different economies during early phase of COVID-19 pandemic. 61
33595767 2021
15
Bone marrow niche ATP levels determine leukemia-initiating cell activity via P2X7 in leukemic models. 61
33301426 2021
16
Perceived Preparedness of Dental Academic Institutions to Cope with the COVID-19 Pandemic: A Multi-Country Survey. 61
33557068 2021
17
Neuroblastoma: The basis for cure in limited-resource settings. 61
33533177 2021
18
Copper niobate nanowires immobilized on reduced graphene oxide nanosheets as rate capability anode for lithium ion capacitor. 61
33039862 2021
19
High performance Li-ion capacitor fabricated with dual graphene-based materials. 61
32947263 2021
20
Intraventricular haemorrhage in a Ugandan cohort of low birth weight neonates: the IVHU study. 61
33407279 2021
21
A systematic review and meta-analysis of diagnostic accuracy of HPV tests for the screening of cervical cancer in low-resource settings. 61
33124048 2021
22
Behavioral interventions for asthma self-management in South Asian populations: a systematic review. 61
31532264 2021
23
Factors associated with breast cancer screening intention in Kathmandu Valley, Nepal. 61
33481894 2021
24
Assessment of Surgical Care Provided in National Health Services Hospitals in Mozambique: The Importance of Subnational Metrics in Global Surgery. 61
33521876 2021
25
The Clean pilot study: evaluation of an environmental hygiene intervention bundle in three Tanzanian hospitals. 61
33413647 2021
26
Acting on the call: A framework for action for rapid acceleration of access to the HPV vaccination in low- and lower-middle-income countries. 61
33185283 2021
27
Targeting Leukemia-Initiating Cells in Acute Lymphoblastic Leukemia. 61
33414170 2021
28
Outcome at 1 year in patients with femoral shaft fractures treated with intramedullary nailing or skeletal traction in a low-income country: a prospective observational study of 187 patients in Malawi. 61
32698707 2020
29
Establishing a Patient-centered Longitudinal Integrated Clerkship: Early Results from a Single Institution. 61
33372421 2020
30
Na0.76V6O15/Activated Carbon Hybrid Cathode for High-Performance Lithium-Ion Capacitors. 61
33396727 2020
31
A situation analysis of the state of supply of in vitro diagnostics in Low-Income Countries. 61
32758073 2020
32
Acute hypoxaemic respiratory failure in a low-income country: a prospective observational study of hospital prevalence and mortality. 61
33148779 2020
33
Availability and affordability of medicines and cardiovascular outcomes in 21 high-income, middle-income and low-income countries. 61
33148540 2020
34
Supracondylar humerus fractures in low- and lower middle-income countries: a scoping review of the current epidemiology, treatment modalities, and outcomes. 61
32691122 2020
35
Scalable Production of Wearable Solid-State Li-Ion Capacitors from N-Doped Hierarchical Carbon. 61
33002239 2020
36
The hidden curriculum and its marginalisation of Longitudinal Integrated Clerkships. 61
32552380 2020
37
Loss of TG-Interacting Factor 1 decreases survival in mouse models of myeloid leukaemia. 61
33058427 2020
38
Strategies to Connect Low-Income Communities with the Proposed Sewerage Network of the Dhaka Sanitation Improvement Project, Bangladesh: A Qualitative Assessment of the Perspectives of Stakeholders. 61
33019716 2020
39
Risk factors of early mortality after neonatal surgery in Tunisia. 61
32654833 2020
40
Boron Carbonitride Lithium-Ion Capacitors with an Electrostatically Expanded Operating Voltage Window. 61
32975401 2020
41
The World Federation of Neurosurgical Societies Young Neurosurgeons Survey (Part II): Barriers to Professional Development and Service Delivery in Neurosurgery. 61
33103110 2020
42
Does the Narrative About the Use of Evidence in Priority Setting Vary Across Health Programs Within the Health Sector: A Case Study of 6 Programs in a Low-Income National Healthcare System. 61
32610742 2020
43
Availability of equipment and medications for non-communicable diseases and injuries at public first-referral level hospitals: a cross-sectional analysis of service provision assessments in eight low-income countries. 61
33040014 2020
44
Not all who wander are lost: evaluation of the Hull York medical school longitudinal integrated clerkship. 61
32898461 2020
45
Follow-Up Care for Breast and Colorectal Cancer Across the Globe: Survey Findings From 27 Countries. 61
32955943 2020
46
Global variations in the prevalence, treatment, and impact of atrial fibrillation in a multi-national cohort of 153,152 middle-aged individuals. 61
32777820 2020
47
Three-Dimensional Topotactic Host Structure-Secured Ultrastable VP-CNO Composite Anodes for Long Lifespan Lithium- and Sodium-Ion Capacitors. 61
32490658 2020
48
Community economic factors influence outcomes for patients with primary malignant glioma. 61
32765895 2020
49
Professional identity formation within Longitudinal Integrated Clerkships: a scoping review protocol. 61
32709252 2020
50
Recommendations for treating life-threatening Kaposi sarcoma during pregnancy in HIV-positive women in low income countries. 61
32493141 2020

Variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

ClinVar genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSMCE3 , FAM189A1 NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe) SNV Pathogenic 267795 rs199905054 GRCh37: 15:29561120-29561120
GRCh38: 15:29268916-29268916
2 NSMCE3 , FAM189A1 NM_138704.4(NSMCE3):c.626C>T (p.Pro209Leu) SNV Pathogenic 267796 rs886037827 GRCh37: 15:29561284-29561284
GRCh38: 15:29269080-29269080
3 NSMCE3 , FAM189A1 NM_138704.4(NSMCE3):c.586A>G (p.Thr196Ala) SNV Uncertain significance 1034263 GRCh37: 15:29561324-29561324
GRCh38: 15:29269120-29269120

UniProtKB/Swiss-Prot genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 NSMCE3 p.Pro209Leu VAR_078021 rs886037827
2 NSMCE3 p.Leu264Phe VAR_078022 rs199905054

Expression for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Search GEO for disease gene expression data for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome.

Pathways for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

GO Terms for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Sources for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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