免疫先知

免疫先知分析內容為與自體免疫與自體發炎疾病有關的104個基因:

ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AP1S3, AP3B1, BLOC1S6, BTK, C1NH, CARD14, CASP10, CASP8, CD27, CD3G, CD40LG, CEBPE, COPA, CR2, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DKC1, DNASE1, DNASE1L3, DOCK8, FAS, FASLG, FGR, FOXP3, ICOS, IFIH1, IL10, IL10RA, IL10RB, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, ITCH, ITGB2, ITK, LIG4, LPIN2, LRBA, LYST, MAGT1, MEFV, MVK, NCF2, NCF4, NFKB2, NFKBIA, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PIK3CD, PIK3R1, PLCG2, PNP, POLA1, PRF1, PRKCD, PSMA3, PSMB4, PSMB8, PSMB9, PSTPIP1, RAB27A, RAG1, RAG2, RBCK1, RIPK1, RTEL1, SAMHD1, SH2D1A, SH3BP2, SLC29A3, STAT3, STIM1, STING1, STX11, STXBP2, TBX1, TMEM173, TNFAIP3, TNFRSF1A, TREX1, TRNT1, TTC7A, UNC13D, USP18, WAS, XIAP, ZAP70

自體免疫和自體發炎疾病是免疫相關疾病,具有共同的發炎症過程。自體免疫疾病起因於後天免疫系統對自身抗原的刺激而被活化,而自體發炎疾病則是涉及先天免疫系統,即便缺乏大量高度反應T細胞和自體抗體也依然會發生。

自體免疫疾病影響約3-10%的人口。然而在不同的疾病間,盛行率有著極大的不同,同時不同族群中相同疾病的發病率也相異。自體免疫疾病是一種具有各類型態的疾病,其中一些是只發生在特定器官的疾病,而其他類別則會系統性地影響多個器官系統。大多數自體免疫疾病涉及多種因素,包括遺傳和環境。然而,部分自體免疫疾病是與特定的遺傳原因相關的單一基因疾病。

自體發炎疾病的特徵是由先天免疫系統的不適當活化而引起的連續發炎反應。 在大多數情況下,這些疾病具有經由環境影響觸發的高度相關性遺傳原因。

此檢測內容可以幫助診斷自體免疫疾病和自體發炎性疾病,特別是在復雜的臨床病例中,可以幫助區分症狀重疊的疾病並有助於風險評估。

技術摘要

我們使用次世代定序方法解析基因序列,技術的敏感性和特異性高達99%。這個檢測的平均覆蓋深度 > 100X98%的目標區的覆蓋率 >= 10X。這個基因檢測套件使用Atlas-CNV方法偵測大片段的缺失及重複(CNVs)

基因與相關疾病

基因名 相關疾病 相關疾病中文名
ACP5 Spondyloenchondrodysplasia with immune dysregulation 免疫失調
ADA Severe combined immunodeficiency due to ADA deficiency, partial adenosine deaminase deficiency, ADA 缺乏症
ADA2 Vasculitis autoinflammation immunodeficiency and hematologic defects syndrome ADA 缺乏症
ADAM17 Inflammatory skin and bowel disease neonatal 1 幼兒發炎性皮膚及腸道疾病
ADAR Aicardi-Goutieres syndrome 6; Dyschromatosis symmetrica hereditaria Aicardi-Goutieres 症候群
AICDA Immunodeficiency with hyper-IgM type 2 免疫球蛋白缺乏症
AIRE Autoimmune polyendocrinopathy syndrome type I with or without reversible metaphyseal dysplasia 自體免疫多發性內分泌病變
AP1S3 susceptibility to pustular Psoriasis 15 全身型膿皰性乾癬
AP3B1 Hermansky-Pudlak syndrome 2 Hermansky-Pudlak 症候群
BLOC1S6 Hermansky-pudlak syndrome 9 Hermansky-Pudlak 症候群
BTK Agammaglobulinemia X-linked 1, Isolated growth hormone deficiency type III with agammaglobulinemia 布魯頓式低免疫球蛋白症
C1NH Partial deficiency of complement component 4 補體系統缺陷
CARD14 Psoriasis 2, Pityriasis rubra pilaris 毛孔性紅糠疹
CASP10 Autoimmune lymphoproliferative syndrome type II 自體免疫淋巴增生症候群
CASP8 Autoimmune lymphoproliferative syndrome type IIB 自體免疫淋巴增生症候群
CD27 Lymphoproliferative syndrome 2 淋巴球增多症
CD3G Immunodeficiency 17 CD3 gamma deficient 免疫缺乏症
CD40LG Immunodeficiency X-linked with hyper-IgM 免疫缺乏症
CEBPE Autoinflammatory inflammasomopathy 自體發炎病變
COPA Autoimmune interstitial lung joint and kidney disease 自體免疫性肺、關節、腎病變
CR2 Immunodeficiency common variable 7, Systemic lupus erythematosus susceptibility to 9 全身性紅斑狼瘡
CTLA4 Susceptibility to systemic lupus erythematosus, Diabetes mellitus insulin- dependent 12, susceptibility to Celiac disease 3, Autoimmune lymphoproliferative syndrome type V, Hashimoto thyroiditis 全身性紅斑狼瘡
CYBA Chronic granulomatous disease autosomal due to deficiency of CYBA 慢性肉芽腫病
CYBB Immunodeficiency 34 mycobacteriosis X-linked, Chronic granulomatous disease X-linked 慢性肉芽腫病
DCLRE1C Omenn syndrome, Severe combined immunodeficiency Athabascan type 歐門氏症候
DDX58 Singleton-Merten syndrome Singleton-Merten 症候群
DKC1 Primary immunodeficiency, Dyskeratosis congenita X-linked 免疫不全、先天性角化不良症
DNASE1 Susceptibility to Systemic lupus erythematosus 全身性紅斑狼瘡
DNASE1L3 Systemic lupus erythematosus 16 全身性紅斑狼瘡
DOCK8 Hyper-IgE recurrent infection syndrome autosomal recessive DOCK8 免疫不全
FAS Autoimmune lymphoproliferative syndrome type IA 自體免疫淋巴增生症候群
FASLG Autoimmune lymphoproliferative syndrome type IB 自體免疫淋巴增生症候群
FGR Autoinflammatory bone disease 自體發炎性骨病變
FOXP3 Immunodysregulation polyendocrinopathy and enteropathy X-linked 免疫失調症
ICOS Immunodeficiency common variable 1 免疫不全症
IFIH1 Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1 Aicardi-Goutieres 症候群
IL10 Progression of rheumatoid arthritis 類風濕關節炎
IL10RA Inflammatory bowel disease 28 early onset autosomal recessive 潰瘍性結腸炎
IL10RB Inflammatory bowel disease 25 early onset autosomal recessive 潰瘍性結腸炎
IL1RN Interleukin 1 receptor antagonist deficiency 免疫失調症
IL21 Immunodeficiency common variable 11 類風濕性關節炎
IL21R Immunodeficiency 56 免疫不全症
IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity, susceptibility to diabetes mellitus insulin-dependent 10 類風濕性關節炎、多發性硬化症
IL2RG Severe combined immunodeficiency X-linked, Combined immunodeficiency X-linked moderate 免疫不全症
IL36RN Psoriasis 14 pustular 膿皰型乾癬
ITCH Autoimmune disease multisystem with facial dysmorphism 多系統自體免疫疾病
ITGB2 Leukocyte adhesion deficiency 白血球沾黏分子缺乏症
ITK Lymphoproliferative syndrome 1 免疫性淋巴细胞增生症
LIG4 LIG4 syndrome, severe combined Immunodeficiency 免疫不全症
LPIN2 Majeed syndrome 馬吉德症候群
LRBA Immunodeficiency common variable 8 with autoimmunity 免疫不全症
LYST Chediak-Higashi syndrome 闕迪克-西卡氏症候群
MAGT1 Immunodeficiency X-linked with magnesium defect, Epstein-Barr virus infection, and neoplasia; Congenital disorder of glycosylation type Icc 缺鎂性免疫不全
MEFV Familial Mediterranean fever 家族性地中海熱
MVK Hyper-IgD syndrome 高IgD 症候群
NCF2 Chronic granulomatous disease due to deficiency of NCF-2 全身性紅斑狼瘡、慢性肉芽腫病
NCF4 Granulomatous disease chronic autosomal recessive cytochrome b- positive type III 全身性紅斑狼瘡、慢性肉芽腫病
NFKB2 Immunodeficiency common variable 10 免疫不全症
NFKBIA Ectodermal dysplasia and immunodeficiency 2 免疫不全症
NLRC4 Autoinflammation with infantile enterocolitis, Familial cold autoinflammatory syndrome 4 自體免疫辦幼兒壞死性腸炎
NLRP1 Autoinflammation with arthritis and dyskeratosis 白斑症、關節炎與角化不全症
NLRP12 Familial cold autoinflammatory syndrome 2 家族性冷因性自體發炎症候群
NLRP3 Familial cold inflammatory syndrome 1, Muckle-Wells syndrome, CINCA syndrome, Deafness autosomal dominant 34 with or without inflammation, Keratoendothelitis fugax hereditaria 家族性冷因性自體發炎症候群
NOD2 Yao syndrome, susceptibility to psoriatic arthritis, Blau syndrome, Inflammatory bowel disease 1 Crohn disease Blau 症候群、乾癬性關節炎
OTULIN Autoinflammation, panniculitis, and dermatosis syndrome 自體免疫脂層炎、皮膚病症候群
PIK3CD Immunodeficiency 14 免疫不全症
PIK3R1 Immunodeficiency 36, Agammaglobulinemia 7 autosomal recessive, SHORT syndrome 免疫不全症
PLCG2 Familial cold autoinflammatory syndrome 3, Autoinflammation antibody deficiency and immune dysregulation syndrome 家族性冷因性自體發炎症候群
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency 免疫不全症
POLA1 X-linked reticulate pigmentary disorder 網狀色素失調症
PRF1 Hemophagocytic lymphohistiocytosis familial 2, Aplastic anemia 噬血球性淋巴組織球增生症
PRKCD Autoimmune lymphoproliferative syndrome type III 淋巴球增多症
PSMA3 Digenic proteasome-associated autoinflammatory syndrome-1 DPSA 症候群
PSMB4 Proteasome-associated autoinflammatory syndrome 3 and digenic forms PAAS 症候群
PSMB8 Proteasome-associated autoinflammatory syndrome 1 and digenic forms PAAS 症候群
PSMB9 Proteasome-associated autoinflammatory syndrome 3, digenic PAAS 症候群
PSTPIP1 Pyogenic sterile arthritis pyoderma gangrenosum and acne 化膿性關節炎
RAB27A Griscelli syndrome type 2 Griscell 氏症候群
RAG1 Omenn syndrome, Severe combined immunodeficiency B cell-negative, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion severe cytomegalovirus infection and autoimmunity, Combined cellular and humoral immune defects with granulomas 歐門氏症候群
RAG2 Severe combined immunodeficiency B cell-negative, Combined cellular and humoral immune defects with granulomas, Omenn syndrome 歐門氏症候群
RBCK1 Immunodeficiency, autoinflammation & amylopectinosis, Polyglucosan body myopathy 1 with or without immunodeficiency 免疫不全症
RIPK1 Autoinflammatory disease 全身性紅斑狼瘡
RTEL1 Dyskeratosis congenita autosomal recessive 5, Pulmonary fibrosis and/or bone marrow failure telomere-related 3, Dyskeratosis congenita autosomal dominant 4 先天性角化不良症、肺纖維化
SAMHD1 Chilblain lupus 2, Aicardi-Goutieres syndrome 5 Aicardi-Goutieres 症候群
SH2D1A Lymphoproliferative syndrome X-linked 1 淋巴球增多症
SH3BP2 Cherubism 巨顎症
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome 淋巴結腫大症候群
STAT3 Hyper-IgE recurrent infection syndrome, Autoimmune disease multisystem infantile-onset 1 淋巴球增多症、先天性高免疫球蛋白E症候群
STIM1 Immunodeficiency 10, Stormorken syndrome 免疫不全症
STING1 STING-associated vasculopathy, infantile-onset 史托摩根症候群
STX11 Hemophagocytic lymphohistiocytosis familial 4 第4型家族性噬血症候群
STXBP2 Hemophagocytic lymphohistiocytosis familial 5 第5型家族性噬血症候群
TBX1 DiGeorge syndrome 狄喬治症候群
TMEM173 STING-associated vasculopathy infantile-onset 史托摩根症候群
TNFAIP3 Autoinflammatory syndrome familial Behcet-like 類貝塞特氏自體發炎症候群
TNFRSF1A Periodic fever familial, susceptibility to Multiple sclerosis 5 多發性硬化症
TREX1 Susceptibility to systemic lupus erythematosus , Vasculopathy retinal with cerebral leukodystrophy , Aicardi-Goutieres syndrome 1, Chilblain lupus 全身性紅斑狼瘡
TRNT1 Sideroblastic anemia with B-cell immunodeficiency periodic fevers and developmental delay 免疫不全
TTC7A Gastrointestinal defects and immunodeficiency syndrome 免疫不全
UNC13D Hemophagocytic lymphohistiocytosis familial 3 第3型家族性噬血症候群
USP18 Pseudo-TORCH syndrome 2 偽TORCH症候群
WAS Wiskott-Aldrich syndrome, Thrombocytopenia X-linked intermittent , Thrombocytopenia X-linked,  Neutropenia severe congenital X-linked Wiskott-Aldrich 氏症候群
XIAP Lymphoproliferative syndrome X-linked 2 淋巴球增多症
ZAP70 Autoimmune disease multisystem infantile-onset 2 , Immunodeficiency 48 免疫不全

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