IllnessLupus erythematodes, susceptibility

NGS + SNP

Lupus erythematodes 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. Systemic vs. cutanous Lupus

• 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)
• 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)
• Sympt.: Chronic atypical neutrophilic dermatosis, lipodystrophy, elevated temperature
• 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)