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ErkrankungLupus [erythematodes], "monogen"; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes panel zur Abklärung monogener Faktoren in der Entwicklung von Lupus erythematosus mit 13 core candidate-Genen und insgesamt 54 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
LP8586
Anzahl Gene
42 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
12,8 kb (Core-/Basis-Gene)
71,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
C1QB762AR
C1R1884AD
C1S2067AD
C22259AR
DNASE1L3828AR und/oder Ass
PSMA3779n.k.
PSMB4802AR und/oder Dig
PSMB8831AR und/oder Dig
PSMB9660AR und/oder Dig
RNASEH2A900AR
TREX1945AD und/oder AR und/oder Ass
ACP5978AR
ADAR2796AD und/oder AR
C1QA738AR
C1QC738AR
C4A5097AR und/oder Ass
C4B5235AR und/oder Ass
C55031AD und/oder AR
C62805AR
C72532AR und/oder Sus
C8A1755AR
C8B1776AR
C91680AR
CYBB1713XLR
DNASE1849AD und/oder Ass
FAS1008AD und/oder SMu
FASLG846AD und/oder SMu
IFIH13078AD
IKZF11560AD und/oder SMu
ISG15498AR
KRAS567AD und/oder SMu und/oder Sus
MAN2B13036AR
PEPD1482AR
PRKCD2031AR
PTPN111782AD und/oder SMu
RAG21584AR
RNASEH2B939AR
RNASEH2C495AR
SAMHD11881AD und/oder AR und/oder Ass
SHOC21749AD
SLC7A71536AR
STING11140AD

Infos zur Erkrankung

Klinischer Kommentar

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.

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Ass
  • AD und/oder Ass
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder Dig
  • AR und/oder Sus
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
L93.-

Bioinformatik und klinische Interpretation

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