Abstract
ITK突变引起的原发性免疫缺陷的淋巴增殖性疾病比较罕见，及时诊断是改善原发性免疫缺陷病的结局并降低其病死率的重要因素。本文报道1例罕见的ITK杂合突变的原发性免疫缺陷的患儿，腹股沟肿块及颈部淋巴结活检提示Burkitt淋巴瘤及淋巴增殖性疾病。临床特征表现为全身淋巴结肿大、严重的EB病毒感染、CD4+T细胞持续减少、双阴性T细胞增加、IgG水平升高、血小板及中性粒细胞减少、低纤维蛋白原血症及高γ球蛋白血症。此病例具有自身免疫性淋巴细胞增生综合征样疾病的临床表现及实验室特征。.
MeSH terms
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Autoimmune Lymphoproliferative Syndrome / diagnosis
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Autoimmune Lymphoproliferative Syndrome / genetics
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Burkitt Lymphoma / genetics
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Burkitt Lymphoma / pathology
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Epstein-Barr Virus Infections / genetics
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Female
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Humans
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Immunologic Deficiency Syndromes / genetics
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Lymphadenopathy / genetics
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Lymphadenopathy / pathology
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Lymphoproliferative Disorders / genetics
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Lymphoproliferative Disorders / pathology
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Male
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Mutation*
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Primary Immunodeficiency Diseases / genetics
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Protein-Tyrosine Kinases / genetics