López Cruz M C, Martín Mateos M A, Giner Muñoz M T, Plaza Martín A M, Sierra Martínez J I
Integrated Unity Hospital Clinic Sant Joan de Déu, University of Barcelona, Spain.
Allergol Immunopathol (Madr). 2000 Nov-Dec;28(6):323-7.
Common variable immunodeficiency is a disorder characterised by hypogammaglobulinemia with B-lymphocytes in peripheral blood and repeated infections. We report a child with a diagnosis of diabetes mellitus and celiac disease during lactation, and in whom common variable immunodeficiency was diagnosed at the age of 5. During evolution of the disease he presented multiple respiratory infections in spite of substitution therapy with gamma globulins. He presented pulmonary fibrosis with a pulmonary volume reduced, and a spirometric restrictive patron. Immunologically, he presents reduction in CD4 lymphoid population. He expresses the alleles DQ2 A1 0501 and B1 which are strongly associated with susceptibility to insulin-dependent diabetes mellitus and celiac disease, but don't express antigens HLA class II DR3 and DR4 that are more frequent in these entities. The main disease and all the complications had affected his curve pondostatural.
常见变异型免疫缺陷是一种以低丙种球蛋白血症、外周血B淋巴细胞减少和反复感染为特征的疾病。我们报告一名在哺乳期被诊断为糖尿病和乳糜泻的儿童，其在5岁时被诊断为常见变异型免疫缺陷。在疾病进展过程中，尽管接受了丙种球蛋白替代治疗，他仍出现了多次呼吸道感染。他出现了肺纤维化，肺容积减小，肺功能检查呈限制性模式。免疫方面，他的CD4淋巴细胞群体减少。他表达与胰岛素依赖型糖尿病和乳糜泻易感性密切相关的等位基因DQ2 A1 0501和B1，但不表达这些疾病中更常见的HLA II类抗原DR3和DR4。主要疾病及其所有并发症影响了他的身高增长曲线。
