Genomics Precision Diagnostic > Rheumatology Precision Panel > Systemic Lupus Erythematosus Precision Panel

Systemic Lupus Erythematosus Precision Panel – 33 genes

Systemic Lupus Erythematosus is a chronic multisystemic autoimmune disease of unknown cause. The most prominent feature of this disease is the onset of immunologic abnormalities, especially the production of antinuclear antibodies.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Systemic Lupus Erythematosus is a chronic multisystemic autoimmune disease of unknown cause. The most prominent feature of this disease is the onset of immunologic abnormalities, especially the production of antinuclear antibodies. These antibodies chase for nuclear and cytoplasmatic antigens, which causes multisystem inflammation and protean clinical manifestations, among other symptoms. Although the dermatologic manifestation is the most representative feature, this disorder can affect any tissue or system in a wide range of intensity, causing from mild joint and skin involvement to life-threatening renal, hematologic and nervous system involvement. The mode of inheritance varies from autosomal dominant to recessive.
The Igenomix Systemic Lupus Erythematosus Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of arthritis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Systemic Lupus Erythematosus Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations:
- Arthritis and arthralgias
- Facial eruption
- Cardiac involvement: Pericarditis and pericardial effusion.
- Vascular manifestations: Erythroderma, vasculitis, venous thrombotic event, Raynaud phenomenon.
- Gastrointestinal involvement: esophagitis, pancreatitis, peritonitis.
- Pulmonary involvement: pleuritis, pneumonitis, interstitial lung disease, alveolar haemorrhage.
- Neurologic involvement: Stroke, seizures, cognitive dysfunction, peripheral neuropathies.
- Hematologic abnormalities: Anemia of chronic disease, leukopenia, thrombocytopenia.
- Ophthalmologic involvement: Sjögren’s Syndrome, retinal vasculopathy, scleritis.
- Osteoporosis and osteonecrosis.

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of multidisciplinary treatment including mainly pharmacologic treatment with hydroxychloroquine or chloroquine to relief constitutional symptoms, musculoskeletal manifestations and mucocutaneous manifestations. High doses of systemic glucocorticoids (such as methylprednisolone) can be considered as well if secondary manifestations are life-threatening.
Periodic follow up with cardiologist, rheumatologist, ophthalmologist and dermatologist.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ACP5*	Combined Immunodeficiency, Autoimmunity, Spondyloenchondrodysplasia	AR	100	27 of 28
*C1QA*	C1q Deficiency	AR	100	8 of 8
*C1QB*	C1q Deficiency	AR	99.91	8 of 8
*C1QC*	C1q Deficiency	AR	100	11 of 11
*C1S*	Complement Component C1s Deficiency, Ehlers-Danlos Syndrome	AD	100	12 of 12
C2	Complement Component 2 Deficiency	AR	99.97	9 of 9
C3	Complement Component 3 Deficiency, Hemolytic Uremic Syndrome	AD,AR	100	123 of 124
*C4A*	Complement Component 4a Deficiency, Behçet Disease	AR	19.11	0 of 6
*C8A*	Complement Component 8 Deficiency	AR	100	8 of 8
*CASP10*	Autoimmune Lymphoproliferative Syndrome, Gastric Cancer, Lymphoma Non- Hodgkin	AD	99.86	6 of 6
*CTLA4*	Autoimmune Lymphoproliferative Syndrome, Hashimoto Thyroiditis, Systemic Lupus Erythematosus, Classic Mycosis Fungoides, Granulomatosis With Polyangiitis, Sézary Syndrome	AD	99.97	60 of 60
*DDX41*	Myeloproliferative And Lymphoproliferative Neoplasms	AD	99.99	56 of 56
*DNASE1*	Systemic Lupus Erythematosus	AD	100	5 of 5
*DNASE1L3*	Systemic Lupus Erythematosus, Hypocomplementemic Urticarial Vasculitis	AR	100	4 of 4
*FAS*	Autoimmune Lymphoproliferative Syndrome, Behçet Disease, Vogt- Koyanagi-Harada Disease	AD	100	135 of 135
*FASLG*	Autoimmune Lymphoproliferative Syndrome, Lung Cancer	AD	99.98	8 of 9
*FCGR2A*	Cystic Fibrosis, Systemic Lupus Erythematosus	AD,AR	93.97	–
*FCGR2B*	Systemic Lupus Erythematosus	AD	73.78	1 of 1
*IRAK1*	Pediatric Systemic Lupus Erythematosus	–	96.2	–
*MASP2*	Masp2 Deficiency	AR	99.68	7 of 7
*NLRP1*	Autoinflammation With Arthritis, Dyskeratosis, Ectodermal Dysplasia, Respiratory Papillomatosis, Vitiligo-Associated Multiple Autoimmune Disease	AD,AR,MU,P	99.37	15 of 15
*PEPD*	Prolidase Deficiency	AR	95	34 of 34
*PNP*	Immunodeficiency, Purine Nucleoside Phosphorylase Deficiency	AR	99.73	39 of 39
*PRKCD*	Immunodeficiency, Autoimmune Lymphoproliferative Syndrome	AR	100	9 of 9
*PTPN22*	Diabetes Mellitus, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Giant Cell Arteritis, Granulomatosis With Polyangiitis, Juvenile Idiopathic Arthritis, Vogt- Koyanagi-Harada Disease	AD	99.67	5 of 5
*RASGRP1*	Immunodeficiency, Autoimmune Lymphoproliferative Syndrome	AR	98.41	8 of 9
*SEMA6B*	Epilepsy	AD	80.58	4 of 4
*SERPING1*	Angioedema, Complement Component 4 Deficiency	AD,AR	99.97	518 of 524
*SMPD1*	Niemann-Pick Disease	AR	99.98	258 of 258
*SPP1*	Pediatric Systemic Lupus Erythematosus	–	99.77	2 of 2
*STAT4*	Behçet Disease, Juvenile Idiopathic Arthritis, Systemic Lupus Erythematosus	–	99.98	4 of 4
*TPP2*	Autoimmune Hemolytic Anemia, Autoimmune Thrombocytopenia, Primary Immunodeficiency Syndrome	–	99.84	11 of 11
*TREX1*	Aicardi-Goutieres Syndrome, Chilblain Lupus, Systemic Lupus Erythematosus, Vasculopathy, Cerebral Leukoencephalopathy, Systemic Manifestations	AD,AR	100	75 of 75

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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