IllnessLupus [erythematosus], "monogenic"; differential diagnosis

NGS +

[Sanger]

Lupus erythematosus is a complex multisystem and a heterogenous inflammatory autoimmune disorder with the potential involvement of many organs (kidneys, skin, joints, lungs, cardiovascular system, central nervous system, hematopoietic system) and variable course. Multiple genetic variants associated with lupus susceptibility have been identified through GWAS. Support for a genetic components in lupus comes from concordance rates in monozygotic and dizygotic twins (24 vs. 2%. Viral infections + UV light may be involved. Patients with childhood onset present with more severe phenotype with increased frequencies of glomerulonephritis, cytopenias, neuropsychiatric disease, cutaneous manifestations, anti-dsDNA antibodies, hemolytic anemia. "Monogenic" lupus is early in life (<5 y.) and severe.

• Alias: Systemic lupus erythematodes, SLE
• Allelic: Chronic granulomatous disease, X-linked (CYBB)
• Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
• Allelic: Keratosis linearis with ichthyosis congenita + sclerosing keratoderma (POMP)
• Allelic: Lung cancer, susceptibility to (FASLG)
• Allelic: Omenn syndrome (RAG2)
• Allelic: Singleton-Merten syndrome 1 (IFIH1)
• Allelic: Squamous cell carcinoma, burn scar-related, somatic (FAS)
• Sympt.: Chronic atypical neutrophilic dermatosis, lipodystrophy, elevated temperature
• Aicardi-Goutieres syndrome 1, AD, AR (TREX1)
• Aicardi-Goutieres syndrome 2 (RNASEH2B)
• Aicardi-Goutieres syndrome 3 (RNASEH2C)
• Aicardi-Goutieres syndrome 4 (RNASEH2A)
• Aicardi-Goutieres syndrome 5 (SAMHD1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Autoimmune cytopenias, recurrent infections [lit.] (NEIL3)
• Autoimmune lymphoproliferative syndrome, type IA (FAS)
• Autoimmune lymphoproliferative syndrome, type IB (FASLG)
• Autoimmune lymphoproliferative syndrome, type II (CASP10)
• Autoimmune lymphoproliferative syndrome, type III (PRKCD)
• C1q deficiency (C1QA)
• Chilblain lupus 1, included (TREX1)
• Chilblain lupus 2, included (SAMHD1)
• Combined cellular + humoral immune defects with granulomas (RAG2)
• Immunodeficiency 31A, mycobacteriosis, AD (STAT1)
• Immunodeficiency 31B, mycobacterial and viral infections, AR (STAT1)
• Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD (STAT1)
• Immunodeficiency 34, mycobacteriosis, XL (CYBB)
• Immunodeficiency 38 (ISG15)
• Immunodeficiency, common variable, 13 (IKZF1)
• Immunodeficiency, common variable, 7 (CR2)
• Inflammatory bowel disease 21 (PTPN2)
• Lupus nephritis, susceptibility to (FCGR2A)
• Mannosidosis, alpha-, types I, II (MAN2B1)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• Prolidase deficiency (PEPD)
• Proteasome-associated autoinflammatory syndrome 1 + digenic forms (PSMB8)
• Proteasome-associated autoinflammatory syndrome 1, digenic (PSMA3)
• Proteasome-associated autoinflammatory syndrome 2 (POMP)
• Proteasome-associated autoinflammatory syndrome 3 + digenic forms (PSMB4)
• Proteasome-associated autoinflammatory syndrome 3, digenic (PSMB9)
• RAS-associated autoimmune leukoproliferative disorder (KRAS)
• STING-associated vasculopathy, infantile-onset (STING1)
• Severe combined immunodeficiency, B cell-negative (RAG2)
• Spondyloenchondrodysplasia with immune dysregulation (ACP5)
• Systemic lupus erythematosus 16 (DNASE1L3)
• Systemic lupus erythematosus, resistance to (TLR5)
• Systemic lupus erythematosus, susceptibility to (CTLA4, DNASE1, FCGR2B, PTPN22, TREX1)
• Systemic lupus erythematosus, susceptibility to, 1 (TLR5)
• Systemic lupus erythematosus, susceptibility to, 10 (IRF5)
• Systemic lupus erythematosus, susceptibility to, 11 (STAT4)
• Systemic lupus erythematosus, susceptibility to, 2 (PDCD1)
• Systemic lupus erythematosus, susceptibility to, 6 (ITGAM)
• Systemic lupus erythematosus, susceptibility to, 9 (CR2)