Lymphoproliferative Syndrome, X-Linked, 1 (XLP1)

X-连锁淋巴细胞增生综合征1型(来自ICD-11)

别称:

Lymphomatoid Papulosis

Purtilo Syndrome

Duncan Disease

X-Linked Lymphoproliferative Syndrome

X-Linked Lymphoproliferative Disease

Xlp

Xlp1

Lyp

X-Linked Lymphoproliferative Disease Due to Sh2d1a Deficiency

X-Linked Lymphoproliferative Syndrome 1

Lymphoproliferative Disease, X-Linked

Immunodeficiency 5

Xlpd

Imd5

Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males

Immunodeficiency, X-Linked Progressive Combined Variable

X-Linked Progressive Combined Variable Immunodeficiency

Infectious Mononucleosis, Severe, Susceptibility to

Severe Susceptibility to Infectious Mononucleosis

Lymphoproliferative Syndrome, X-Linked, Type 1

Epstein-Barr Virus Infection, Familial Fatal

X-Linked Lymphoproliferative Syndrome Type 1

Sh2d1a/slam-Associated Protein Deficiency

Ebv Infection, Severe, Susceptibility to

Severe Susceptibility to Ebv Infection

Lymphoproliferative Syndrome, X-Linked

Familial Fatal Epstein-Barr Infection

X-Linked Lymphoproliferative Disorder

Infectious Mononucleosis, Severe

Ebv Infection, Severe

Sap Deficiency

Ebvs

Sap

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

X-连锁淋巴增殖综合症1，也被称为淋巴瘤样丘疹病，与皮肤原发性大细胞淋巴瘤和蕈样肉芽肿有关。与X-连锁淋巴增殖综合症1相关的基因是SH2D1A（SH2结构域包含1A），其相关通路/超级通路包括先天免疫系统和信号转导。在该疾病的背景下，已提到的药物有阿糖胞苷和美法仑。相关组织包括T细胞和皮肤，相关表型包括低白蛋白血症和全血细胞减少症。

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