X-linked lymphoproliferative disease (also known as Duncan disease or Purtilo syndrome and abbreviated as XLP) is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system deficiencies that render them unable to effectively respond to the Epstein-Barr virus (EBV), a common virus in humans that typically induces mild symptoms or infectious mononucleosis (IM) in patients. There are two currently known variations of the disorder, known as XLP1 (XLP Type 1) and XLP2. XLP1 is estimated to occur in approximately one in every million males, while XLP2 is rarer, estimated to occur in one of every five million males. Due to therapies such as chemotherapy and stem cell transplants, the survival rate of XLP1 has increased drama
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| - X-chromosomales lymphoproliferatives Syndrom (de)
- Maladie lymphoproliférative liée à l'X (fr)
- Sindrome di Duncan (it)
- X-linked lymphoproliferative disease (en)
- X连锁淋巴细胞增生性疾病 (zh)
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| - Ein X-chromosomales lymphoproliferatives Syndrom ist eine vererbbare Form eines Lymphoproliferativen Syndroms, und zwar eine akut letal oder chronisch verlaufende Mononukleose aufgrund einer gestörten Immunreaktion auf das Epstein-Barr-Virus. (de)
- X连锁淋巴细胞增生性疾病（X-linked lymphoproliferative disease），又名邓肯病（Duncan's disease）或珀蒂洛综合征（Purtilo syndrome），是一种。 患有X连锁淋巴细胞增生性疾病的男孩无法对人類疱疹病毒第四型病毒（EBV）产生免疫反应，故常死于骨髓衰竭、不可逆肝炎和恶性淋巴瘤。然而，EBV与X连锁淋巴细胞增生性疾病之间的关系尚未明确。患者体内产生的记忆B细胞数量不足。 由于邓肯一家18名男性有6名死于淋巴细胞增生性疾病，包括暴发性傳染性單核白血球增多症和淋巴瘤，故此病又称邓肯病。珀蒂洛综合征一名则得名于华盛顿州美国陆军病理学中心病理学家兼免疫学家戴维·西奥多·珀蒂洛（David Theodore Purtilo）博士（1939–1992），于1970年代初发现此病。珀蒂洛是明尼蘇達州杜魯斯人，在一名患者中发现此病后，便率先展开研究。1980年代后期，珀蒂洛居住于內布拉斯加州奥马哈，于1992年9月28日在佛罗里达去世。 (zh)
- La maladie lymphoproliférative liée à l'X est une maladie génétique en rapport avec une mutation du gène SH2D1A responsable de trois phénotypes :
* Chez un garçon, une réponse immunitaire inappropriée de l'organisme à une infection à virus d'Epstein-Barr avec prolifération des cellules cytotoxiques T et des macrophages responsable d'une mortalité de 90 % des individus atteints souvent par insuffisance hépatique aiguë. Dans un tiers des cas, la diminution de la synthèse des immunoglobulines est diagnostiquée avant une infection à Epstein-Barr. L'injection régulière d'immunoglobuline G permet d'éviter cette complication.
* Une anomalie de la synthèse des gamma globulines.
* Une prolifération inhabituelle des lymphocytes B. (fr)
- X-linked lymphoproliferative disease (also known as Duncan disease or Purtilo syndrome and abbreviated as XLP) is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system deficiencies that render them unable to effectively respond to the Epstein-Barr virus (EBV), a common virus in humans that typically induces mild symptoms or infectious mononucleosis (IM) in patients. There are two currently known variations of the disorder, known as XLP1 (XLP Type 1) and XLP2. XLP1 is estimated to occur in approximately one in every million males, while XLP2 is rarer, estimated to occur in one of every five million males. Due to therapies such as chemotherapy and stem cell transplants, the survival rate of XLP1 has increased drama (en)
- La sindrome di Duncan (dal nome della prima famiglia affetta) o sindrome di Purtilo (dal nome dello scopritore) o sindrome linfoproliferativa legata al cromosoma X o X-linked lymphoproliferative syndrome type 1 (XLP-1) o anche SAP deficiency è una malattia genetica rara legata ad una mutazione recessiva del gene SH2D1A (SLAM-associated protein: SAP) sul cromosoma X. Essa viene diagnosticata ogni anno in meno di 1 su 1.000.000 di bambini o adolescenti. Entrambe fanno parte delle malattie linfoproliferative X-correlate. (it)
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| - X-linked lymphoproliferative disease (en)
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| - X-linked lymphoproliferative disease (en)
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