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Klinische FragestellungLupus erythematodes, Suszeptibilität

Zusammenfassung

Kurzinformation

Umfassendes panel zur Abklärung der Suszeptibilität für Lupus erythematosus mit 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
LP8585
Anzahl Gene
25 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,9 kb (Core-/Core-canditate-Gene)
51,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + SNP

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
DNASE1L3828NM_001256560.2AR
BANK12268NM_001083907.3Ass
C4A5097NM_001252204.2Sus
C4B5235NM_001002029.4Sus
CR23279NM_001006658.3AR, Sus
CRP675NM_000567.3Ass
CTLA4525NM_001037631.3AD
DNASE1849NM_005223.4AD, Sus
FCGR2A954NM_001136219.3Sus
FCGR2B873NM_001002273.3AD, Sus
IRF51497NM_001098627.4Sus
ITGAM3459NM_000632.4Ass
KIRREL31803NM_001161707.1Ass
LTK2205NM_001135685.2Ass
NCF21581NM_000433.4AR, Sus
NLRP14422NM_033004.4AD, AR
PDCD1867NM_005018.3n.k.
PTPN222340NM_015967.7Sus, AD
RASGRP12289NM_001128602.2Sus
SAMHD11881NM_015474.4AD, AR
STAT42247NM_001243835.2Ass, Sus
TLR52577NM_003268.6Sus
TNFAIP32373NM_001270507.2Sus, AD
TNFSF4552NM_003326.5Sus
TREX1945NM_033629.6Sus

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)
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Ass
  • Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
L93.-

Bioinformatik und klinische Interpretation

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