autoimmune lymphoproliferative syndrome

出典: meddic


Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2017/11/17 19:06:22」(JST)

wiki en

[Wiki en表示]

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.


  • Acquired inhibitors to factor VIII and fibrinogen in the setting of T-cell large granular lymphocyte leukemia: a case report and review of the literature.
  • Murphy PW1, Brett LK, Verla-Tebit E, Macik BG, Loughran TP Jr.
  • Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.Blood Coagul Fibrinolysis.2014 Nov 13. [Epub ahead of print]
  • Large granular lymphocyte (LGL) leukemia is an indolent lymphoproliferative malignancy which dysregulates humoral immunity and underlies the myriad autoimmune phenomena. We describe a 62-year-old woman with Felty's syndrome who developed a severe bleeding diathesis. Laboratory evaluation demonstrate
  • PMID 25396761
  • Sarcoidosis occurring after lymphoma: report of 14 patients and review of the literature.
  • London J1, Grados A, Fermé C, Charmillon A, Maurier F, Deau B, Crickx E, Brice P, Chapelon-Abric C, Haioun C, Burroni B, Alifano M, Le Jeunne C, Guillevin L, Costedoat-Chalumeau N, Schleinitz N, Mouthon L, Terrier B.
  • Medicine.Medicine (Baltimore).2014 Nov;93(21):e121. doi: 10.1097/MD.0000000000000121.
  • Sarcoidosis is a granulomatous disease that most frequently affects the lungs with pulmonary infiltrates and/or bilateral hilar and mediastinal lymphadenopathy. An association of sarcoidosis and lymphoproliferative disease has previously been reported as the sarcoidosis-lymphoma syndrome. Although t
  • PMID 25380084
  • A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.
  • Nabhani S1, Hönscheid A1, Oommen PT1, Fleckenstein B2, Schaper J3, Kuhlen M1, Laws HJ1, Borkhardt A1, Fischer U4.
  • Clinical immunology (Orlando, Fla.).Clin Immunol.2014 Oct 24;155(2):231-237. doi: 10.1016/j.clim.2014.10.006. [Epub ahead of print]
  • We report a novel type of mutation in the death ligand FasL that was associated with a severe phenotype of the autoimmune lymphoproliferative syndrome in two patients. A frameshift mutation in the intracellular domain led to complete loss of FasL expression. Cell death signaling via its receptor and
  • PMID 25451160


  • Autoimmune lymphoproliferative syndrome mimicking chronic active Epstein-Barr virus infection
  • NOMURA Keiko,KANEGANE Hirokazu,OTSUBO Keisuke,WAKIGUCHI Hiroshi,NODA Yukihiro,KASAHARA Yoshihito,MIYAWAKI Toshio
  • International journal of hematology 93(6), 760-764, 2011-06-01
  • NAID 10029535559
  • IgG4-Related Disease : A Novel Lymphoproliferative Disorder Discovered and Established in Japan in the 21st Century
  • MASAKI Yasufumi,KUROSE Nozomu,UMEHARA Hisanori
  • Journal of clinical and experimental hematopathology 51(1), 13-20, 2011-05-01
  • … IgG4-related disease is a novel lymphoproliferative disorder that shows hyper-IgG4-γ-globulinemia and IgG4-producing plasma cell expansion in affected organs with fibrotic or sclerotic changes. … Despite similarities in the organs involved in IgG4-related Mikuliczs disease and Sjögrens syndrome, there are marked clinical and pathological differences between these conditions. …
  • NAID 10028238959








  • 癌腫(carcinoma):上皮性
  • 肉腫(sarcoma):間葉系
  • carcinoma:腺癌(adenocarcinma)、扁平上皮癌(squamous cell carcinoma)、移行上皮癌(transitional cell carcinoma)
  • sarcoma:骨肉腫、横紋筋肉腫、平滑筋肉腫、脂肪肉腫、線維肉腫

Neoplasm Causes Effect
Small cell lung carcinoma ACTH or ACTH-like peptide Cushing’s syndrome
Small cell lung carcinoma and intracranial neoplasms ADH SIADH
Squamous cell lung carcinoma, renal cell carcinoma, breast carcinoma, multiple myeloma, and bone metastasis (lysed bone) PTH-related peptide, TGF-β, TNF-α, IL-1 Hypercalcemia
Renal cell carcinoma, hemangioblastoma Erythropoietin Polycythemia
Thymoma, small cell lung carcinoma Antibodies against presynaptic Ca2+ channels at neuromuscular junction Lambert-Eaton syndrome (muscle weakness)
Leukemias and lymphomas Hyperuricemia due to excess nucleic acid turnover (i.e., cytotoxic therapy) Gout, urate nephropathy
  • 最新癌統計
  1位 2位 3位 4位 5位  
男性 肝臓 結腸 膵臓 結腸と直腸を合わせた大腸は4位
女性 結腸 肝臓 乳房 結腸と直腸を合わせた大腸は1位
男女計 肝臓 結腸 膵臓 結腸と直腸を合わせた大腸は3位
  1位 2位 3位 4位 5位  
男性 結腸 肝臓 前立腺 結腸と直腸を合わせた大腸は2位
女性 乳房*1 結腸 子宮*1 結腸と直腸を合わせた大腸は1位
男女計 結腸 乳房*1 肝臓 結腸と直腸を合わせた大腸は2位


Table 79-1 Cancer Predisposition Syndromes and Associated Genes
Syndrome Gene Chromosome Inheritance Tumors
ataxia telangiectasia ATM  11q22-q23 AR breast cancer
autoimmune lymphoproliferative syndrome FAS 10q24 AD lymphomas
FASL 1q23  
Bloom syndrome BLM  15q26.1 AR cancer of all types
Cowden syndrome PTEN  10q23 AD breast, thyroid
familial adenomatous polyposis APC  5q21 AD intestinal adenoma, colorectal cancer
familial melanoma p16INK4  9p21 AD melanoma, pancreatic cancer
familial Wilms tumor WT1  11p13 AD pediatric kidney cancer
hereditary breast/ovarian cancer BRCA1 17q21 AD breast, ovarian, colon, prostate
BRCA2 13q12.3  
hereditary diffuse gastric cancer CDH1  16q22 AD stomach cancers
hereditary multiple exostoses EXT1 8q24 AD exostoses, chondrosarcoma
EXT2 11p11-12  
hereditary prostate cancer HPC1  1q24-25 AD prostate carcinoma
hereditary retinoblastoma RB1  13q14.2 AD retinoblastoma, osteosarcoma
hereditary nonpolyposis colon cancer (HNPCC) MSH2 2p16 AD colon, endometrial, ovarian, stomach, small bowel, ureter carcinoma
MLH1 3p21.3  
MSH6 2p16  
PMS2 7p22  
hereditary papillary renal carcinoma MET  7q31 AD papillary renal tumor
juvenile polyposis SMAD4  18q21 AD gastrointestinal, pancreatic cancers
Li-Fraumeni TP53  17p13.1 AD sarcoma, breast cancer
multiple endocrine neoplasia type 1 MEN1  11q13 AD parathyroid, endocrine, pancreas, and pituitary
multiple endocrine neoplasia type 2a RET  10q11.2 AD medullary thyroid carcinoma, pheochromocytoma
neurofibromatosis type 1 NF1  17q11.2 AD neurofibroma, neurofibrosarcoma, brain tumor
neurofibromatosis type 2 NF2  22q12.2 AD vestibular schwannoma, meningioma, spine
nevoid basal cell carcinoma syndrome (Gorlin's syndrome) PTCH  9q22.3 AD basal cell carcinoma, medulloblastoma, jaw cysts
tuberous sclerosis TSC1 9q34 AD angiofibroma, renal angiomyolipoma
TSC2 16p13.3  
von Hippel–Lindau VHL  3p25-26 AD kidney, cerebellum, pheochromocytoma


疾患 危険因子 防御因子
悪性腫瘍 胃癌 塩辛い食品、喫煙、くん製製品、ニトロソアミン土壌、腸上皮化生Helicobacter pyroli ビタミンC、野菜、果実
食道癌 喫煙飲酒、熱い飲食物 野菜、果実
結腸癌 高脂肪食、肉食、低い身体活動、腸内細菌叢の変化、遺伝(家族性大腸腺腫症)  
肝癌 HBVキャリア・HCVキャリア、アフラトキシン住血吸虫飲酒  
肺癌 喫煙(特に扁平上皮癌)、大気汚染、職業的暴露(石綿(扁平上皮癌悪性中皮腫)、クロム) 野菜、果実
膵癌 高脂肪食喫煙  
口腔癌 喫煙(口唇・舌-パイプ)、ビンロウ樹の実(口腔)、飲酒  
咽頭癌 EBウイルス(上咽頭癌)、飲酒  
喉頭癌 喫煙男性アルコール  
乳癌 高年初産、乳癌の家族歴、肥満、未婚で妊娠回数少ない、無授乳、脂肪の過剰摂取、低年齢初経、高年齢閉経 母乳授乳
子宮頚癌 初交年齢若い、早婚、多産、性交回数が多い(売春)、貧困、不潔]、HSV-2HPV流産、人工妊娠中絶回数が多い  
子宮体癌 肥満糖尿病ピルエストロゲン常用、未婚、妊娠回数少ない、乳癌後のタモキシフエン内服  
膀胱癌 喫煙鎮痛剤乱用、ビルハルツ住血吸虫サッカリン防腐剤  
皮膚癌 日光(紫外線)、ヒ素(Bowen病)  
白血病 放射線ベンゼン、地域集積性(ATL)、ダウン症(小児白血病)  
骨腫瘍 電離放射線  
甲状腺癌 ヨード欠乏または過剰  



autoimmune lymphoproliferative syndrome ALPS



  • Fas(Ia型)
  • FasL(Ib型)
  • caspase-10(II型)


  • リンパ節腫大
  • 肝脾腫
  • 自己免疫性疾患(溶血性貧血、血小板減少症、好中球減少症、糸球体腎炎、自己免疫性肝炎、皮疹など)


  • 副腎皮質ステロイド
  • 免疫抑制薬
  • 骨髄移植







  • ALPS autoimmune lymphoproliferative syndrome
  • 自己免疫病
  • lprマウスやgldマウスと同じ症状を呈する


PMID 12042767


  [★] 自己免疫性リンパ増殖症候群

autoimmune lymphoproliferative syndrome
autoimmune lymphoproliferative syndrome



  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」



WordNet   license wordnet

「of or relating to the immune response of the body against substance normally present in the body」



  • adj.
  • リンパ球増殖性の、リンパ球増殖の
lymphocyte proliferationlymphoproliferation