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 > 100X且98%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 |