Klinische FragestellungLupus [erythematodes], "monogen"; Differentialdiagnose

NGS +

[Sanger]

Lupus erythematodes ist eine komplexe Multisystem sowie heterogene entzündliche Autoimmunerkrankung, die eine Vielzahl von Organen (Niere, Haut, Gelenke, Lunge, Herzkreislaufsystem, ZNS, hämatopoetisches System) befallen und einen variablen Krankheitsverlauf aufweisen kann. Systemischer Lupus wird vom kutanen unterschieden.

• 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)