Norouzi Sayna, Movahedi Zahra, Mamishi Setareh, Monajemzadeh Maryam, Rezaei Nima
Pediatric Infectious Diseases Research Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Turk J Pediatr. 2011 May-Jun;53(3):328-32.
Severe combined immunodeficiency (SCID) is a rare primary immunodeficiency disease, which renders patients prone to recurrent severe infections in early childhood. Herein, we present a five-month-old boy with SCID who was referred to our center with recurrent diarrhea, respiratory infection and lymphadenopathy. Immunological studies showed hypogammaglobulinemia and low number of T-cells, which was compatible with the diagnosis of T- B+ SCID. An advanced cytomegalovirus pneumonitis was detected based on the results of lung necropsy. Cultures and polymerase chain reaction studies of bone marrow aspirates and spleen specimen were indicative of Mycobacterium bovis. This report emphasizes the importance of lymphadenopathy as a sentinel sign of immunological disorders. Underlying immunodeficiency diseases such as SCID should be considered in the differential diagnosis of an infant with infections and lymphadenopathy, particularly in the regions with routine national Bacillus Calmette-Guérin (BCG) vaccination.
重症联合免疫缺陷病（SCID）是一种罕见的原发性免疫缺陷病，它使患者在幼儿期容易反复发生严重感染。在此，我们报告一名5个月大患SCID的男孩，他因反复腹泻、呼吸道感染和淋巴结病转诊至我们中心。免疫学研究显示低丙种球蛋白血症和T细胞数量减少，这与T-B+ SCID的诊断相符。根据肺部尸检结果检测到晚期巨细胞病毒性肺炎。骨髓穿刺液和脾脏标本的培养及聚合酶链反应研究表明存在牛分枝杆菌。本报告强调淋巴结病作为免疫紊乱哨兵体征的重要性。在对患有感染和淋巴结病的婴儿进行鉴别诊断时，应考虑诸如SCID等潜在的免疫缺陷病，特别是在常规进行国家卡介苗（BCG）接种的地区。
