Grumach A S, Duarte A J, Bellinati-Pires R, Pastorino A C, Jacob C M, Diogo C L, Condino-Neto A, Kirschfink M, Carneiro-Sampaio M M
Department of Pediatrics, University of São Paulo, Brazil.
J Clin Immunol. 1997 Jul;17(4):340-5. doi: 10.1023/a:1027335000994.
One hundred sixty-six cases of primary immunodeficiency diseases (PID) (95 males, 71 females), diagnosed according to WHO criteria, have been registered at the Children's Hospital, University of São Paulo, Brazil. The following frequencies were found: predominantly humoral defects, 60.8% (n = 101); T cell defects, 4.9% (n = 8); combined ID, 9.6% (n = 16); phagocyte disorders, 18.7% (n = 31); and complement deficiencies, 6% (n = 10). IgA deficiency was the most frequent disorder (n = 60), followed by transient hypogammaglobulinemia (n = 14), chronic granulomatous disease (n = 14), and X-linked agammaglobulinemia (n = 9). In comparison to other (national) reports, we observed higher relative frequencies of phagocyte and complement deficiencies. Recurrent infections were the cause of death in 12.7%. Allergic symptoms were observed in 41%, mainly in IgA-deficient, hypogammaglobulinemic, or hyper-IgE patients, and autoimmune disorders in 5%, predominantly in IgA and complement deficiencies. Five patients suffered from BCG dissemination; two of them died. This is the first Brazilian report on PID over an observation time of 15 years.
根据世界卫生组织标准诊断的166例原发性免疫缺陷病（PID）患者（95例男性，71例女性）已在巴西圣保罗大学儿童医院登记。发现以下频率：主要为体液缺陷，60.8%（n = 101）；T细胞缺陷，4.9%（n = 8）；联合免疫缺陷，9.6%（n = 16）；吞噬细胞疾病，18.7%（n = 31）；以及补体缺陷，6%（n = 10）。IgA缺乏是最常见的疾病（n = 60），其次是短暂性低丙种球蛋白血症（n = 14）、慢性肉芽肿病（n = 14）和X连锁无丙种球蛋白血症（n = 9）。与其他（国内）报告相比，我们观察到吞噬细胞和补体缺陷的相对频率更高。反复感染是12.7%的死亡原因。41%的患者出现过敏症状，主要见于IgA缺乏、低丙种球蛋白血症或高IgE患者，5%的患者出现自身免疫性疾病，主要见于IgA和补体缺陷患者。5例患者发生卡介苗播散；其中2例死亡。这是巴西关于15年观察期内PID的首份报告。
