X-linked lymphoproliferative syndrome

同

XLP

WordNet

1. the means of connection between things linked in series (同)nexus
2. a unit of length equal to 1/100 of a chain
3. an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
4. a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
5. (computing) an instruction that connects one part of a program or an element on a list to another program or list
6. a pattern of symptoms indicative of some disease
7. a complex of concurrent things; "every word has a syndrome of meanings"
8. the 24th letter of the Roman alphabet (同)x, ex

PrepTutorEJDIC

1. (鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
2. たいまつ
3. (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
4. Christ / Christian

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/07/06 17:24:18」(JST)

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X-linked lymphoproliferative disease
Classification and external resources
ICD-10	D82.3
OMIM	308240 300635
DiseasesDB	3998
eMedicine	med/1370
MeSH	D008232

X-linked lymphoproliferative disease (also known as "Duncan's disease" or "Purtilo syndrome") is a lymphoproliferative disorder.

Causes

XLP1

There is a mutation on the X-chromosome that has been found to be associated with a T- and NK-cell lymphoproliferative disorder. The mutation is on the long arm of the chromosome, at position 25, which is denoted as Xq25. At this position, there is a deletion in the SH2D1A gene, which codes for an SH2 domain on a signal transducing protein called SLAM-associated protein (SAP).

The term "SH2" domain stands for src-homology 2 domain, which is a three-dimensional domain structure of about 100 amino acid residues. These domains are present in many signalling proteins because they permit specific, non-covalent bonding to proteins that contain phosphotyrosines. The amino acid residues adjacent to the phosphotyrosine on the target protein are what determine the unique binding specificity.

The SAP protein is important in the signalling events that activate T- and NK-cells because it functions as an intracellular adapter that transduces T- and NK-cell activation. Normally, the SAP protein is expressed in the cytoplasm of T- and NK-cells, where it binds to the cytoplasmic domain of the surface receptor called signaling lymphocyte activation molecule (SLAM). This binding initiates a signal transduction pathway, which results in the modulation of IFN-γ. A deletion in the SH2D1A gene leads to a non-functional SH2 domain on the SAP protein, which means it is unable to bind to the SLAM molecule, leading to a lack of modulation of IFN-γ, causing uncontrolled cell proliferation.

XLP2

A second form is associated with XIAP.

Some sources recommend classifying this condition as "X-linked familial hemophagocytic lymphohistiocytosis" instead of X-linked lymphoproliferative disease.

Presentation

Strangely, in boys with X-linked lymphoproliferative disorder, there is an inability to mount an immune response to the Epstein-Barr virus (EBV), which often leads to death from bone marrow failure, irreversible hepatitis, and malignant lymphoma. However, the connection between EBV and X-linked lymphoproliferative disorder is yet to be determined.

Patients produce insufficient numbers of CD27 memory B cells.

References

External links

• X-linked lymphoproliferative disease community
• XLP Research Trust
• GeneReview/NIH/UW entry on Lymphoproliferative Disease, X-Linked

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.

• 1. X連鎖リンパ増殖性疾患 x linked lymphoproliferative disease
• 2. 移植後リンパ球増殖性疾患の疫学、臨床症状、および診断 epidemiology clinical manifestations and diagnosis of post transplant lymphoproliferative disorders
• 3. 小児の非ホジキンリンパ腫の概要 overview of pediatric non hodgkin lymphoma
• 4. Sézary症候群の臨床症状、病理学的特徴、および診断 clinical presentation pathologic features and diagnosis of sezary syndrome
• 5. 自己免疫性リンパ増殖症候群(ALPS)：臨床的特徴および診断 autoimmune lymphoproliferative syndrome alps clinical features and diagnosis

English Journal

• Chronic Lymphocytic Leukemia and Other Lymphoproliferative Disorders.

• Wall S1, Woyach JA2.
• Clinics in geriatric medicine.Clin Geriatr Med.2016 Feb;32(1):175-89. doi: 10.1016/j.cger.2015.08.006.
• Chronic lymphocytic leukemia affects less than 1% of US adults but is the most common leukemia and primarily affects older patients. Non-Hodgkin lymphomas are the seventh most common cancers in the United States and also primarily affect older patients. In general, older patients should be treated d
• PMID 26614867

• Chronic and recurrent benign lymphadenopathy without constitutional symptoms associated with human herpesvirus-6B reactivation.

• Forghieri F1, Luppi M1, Barozzi P1, Riva G1, Morselli M1, Bigliardi S1, Quadrelli C1, Vallerini D1, Maccaferri M1, Coluccio V1, Paolini A1, Colaci E1, Bonacorsi G1, Maiorana A2, Tagliazucchi S3, Rumpianesi F3, Mattioli F1, Presutti L1, Gelmini R1, Cermelli C2, Rossi G3, Comoli P4, Marasca R1, Narni F1, Potenza L1.
• British journal of haematology.Br J Haematol.2015 Dec 18. doi: 10.1111/bjh.13871. [Epub ahead of print]
• Chronic/recurrent behaviour may be encountered in some distinct atypical or malignant lymphoproliferations, while recurrences are not generally observed in reactive/benign lymphadenopathies. We retrospectively analysed a consecutive series of 486 human immunodeficiency virus-negative adults, who und
• PMID 26684692

• A 24-Year Enzyme Replacement Therapy in an Adenosine-deaminase-Deficient Patient.

• Tartibi HM1, Hershfield MS2, Bahna SL3.
• Pediatrics.Pediatrics.2015 Dec 18. pii: peds.2015-2169. [Epub ahead of print]
• Severe combined immunodeficiency (SCID) is a fatal childhood disease unless immune reconstitution is performed early in life, with either hematopoietic stem cell transplantation or gene therapy. One of its subtypes is caused by adenosine deaminase (ADA) enzyme deficiency, which leads to the accumula
• PMID 26684479

Japanese Journal

• X連鎖リンパ増殖症候群--SAP欠損症とXIAP欠損症 (AYUMI 血球貪食症候群の発症機構に迫る)

• 金兼 弘和
• 医学のあゆみ 238(11), 1058-1064, 2011-09-10
• NAID 40018973514

• 関節リウマチの根治的治療を目指して-Epstein-Barr ウイルスと感染制御遺伝子(SAP)の応用の可能性

• 武井 正美,北村 登,白岩 秀隆,猪股 弘武,野崎 高正,桑名 慶和,塩崎 昌亮,澤田 滋正,石渡 哲義
• 日本臨床免疫学会会誌 = Japanese journal of clinical immunology 31(3), 141-151, 2008-06-30
• … 2 (SH2）を持つアダプター分子として免疫細胞で働き，EBVの感染防御，液性免疫に深く関与し，SLEの原因遺伝子としても注目されている．SAP遺伝子の異常はEBVの致死的な感染を起こすX-linked lymphoproliferative (XLP) syndrome (Duncan disease）の原因遺伝子としても報告された．この稿ではSAPの機能を簡単に述べ，新たなRAの根治的治療に向けての治療戦略を考察する． …
• NAID 10021242594

Related Links

• X-linked Lymphoproliferative Syndrome: Background ...

X-linked lymphoproliferative (XLP) syndrome is a rare immunodeficiency disease that is characterized by a predilection for hemophagocytic lymphohistiocytosis, fatal or near-fatal Epstein-Barr virus (EBV) –induced ...

• X–linked lymphoproliferative syndrome - National Center for ...

CLINICAL DESCRIPTION OF THE SYNDROME In 1974, two groups independently reported an apparent genetic disorder affecting males with a rapidly fatal course following Epstein–Barr virus (EBV) infection [1,2]. While the case for X ...

Related Pictures

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★リンクテーブル★

リンク元	「X連鎖リンパ増殖症候群」「伴性劣性リンパ球増殖症候群」「X-linked lymphoproliferative disorder」「lymphoproliferative disorder」「Duncan's syndrome」
関連記事	「link」「lymphoproliferative」「linked」「X」「syndrome」

「X連鎖リンパ増殖症候群」

　　[★]

英

X-linked lymphoproliferative syndrome XLP

同

ダンカン症候群 Duncan症候群 Duncan's syndrome Duncan syndrome、X連鎖劣性リンパ増殖症候群、ダンカン病 Duncan病 Duncan disease

関

EBウイルス

概念

• 男児にのみ致死的伝染単核球症、悪性リンパ腫を生じる家系から見いだされた疾患。
• Xq25に座乗するSH2D1A遺伝子にコードされる、SLAM関連蛋白(SAP)の変異により生じる。
• EBウイルス感染でEBウイルス特異的細胞障害性T細胞(EBV特異的CTL)が出現せず、NK活性も低下している。EBウイルスに対する抗体も産生されない。
• 結果として不死化したBリンパ球が死滅しない結果、致死的伝染単核球症、悪性リンパ腫、低ガンマグロブリン血症を発症しうる。
• 治療は骨髄移植。

参考

• 1. LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1 - OMIM

http://omim.org/entry/308240

「伴性劣性リンパ球増殖症候群」

　　[★]

英

X-linked lymphoproliferative syndrome

関

リンパ球増殖性疾患、X連鎖性リンパ球増殖症候群、X連鎖リンパ球増殖症候群、X連鎖リンパ増殖性疾患、ダンカン症候群

「X-linked lymphoproliferative disorder」

　　[★]

X連鎖リンパ増殖性疾患、X連鎖リンパ球増殖性疾患

関

Duncan's syndrome、lymphoproliferative disorder、X-linked lymphoproliferative syndrome

「lymphoproliferative disorder」

　　[★]

• リンパ球増殖性疾患、リンパ増殖性障害

関

Duncan's syndrome、X-linked lymphoproliferative disorder、X-linked lymphoproliferative syndrome

「Duncan's syndrome」

　　[★]

ダンカン症候群、Duncan症候群

関

lymphoproliferative disorder、X-linked lymphoproliferative disorder、X-linked lymphoproliferative syndrome

「link」

　　[★]

• n.

• 関連、連鎖、連結、リンク

• v.

• 関連づける、連結する、連接する

関

associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant

　 　 　 　 　 　 　

「lymphoproliferative」

　　[★]

• adj.

• リンパ球増殖性の、リンパ球増殖の

関

lymphocyte proliferation、lymphoproliferation

「linked」

　　[★]

• adj.

• 連鎖の、連鎖的な、連鎖性の

関

catenation、link、linkage

「X」

　　[★] キサントシン, xanthosine 　 　

「syndrome」

　　[★]

• n.

• 症候群