- 期刊
Autoimmune Manifestations in Patients with Primary Immunodeficiency
先天性免疫功能不全併自體免疫表現之臨床觀察
摘要
先天性免疫功能不全包括多樣化的表現，其中亦包含自體免疫的現象。此論文的目的是經由回溯性的研究探討先天性免疫功能不全并自體免疫現象病人的臨床表現。 自民國七十四年一月至八十七年六月間，共四十七位病人患先天性免疫功能不全，其中十位病人并自體免疫表現。當中包括三位Bruton's疾病、三位變异性免疫缺失症(common variable immunodeficiency)、一位Hyper-IgM、一位原發性CD4T細胞缺乏以及二位Wiskott-Aldrich症候群。其中有四位病人先表現出自體免疫之現象，後來才證實為免疫功能不全。這當中自體免疫的表現包括六位關節炎/關節痛，三位自體免疫溶血性血貧血及一位潰瘍性結腸炎。主要之治療方式為類固醇及非類固醇抗發炎藥物。另一個主要的問題為感染。七位病人至少有一次全身性的細菌或徽蓖感染，一位病人在骨髓移植後四天因敗血症而死亡其他的人在接受抗生素及靜脈注射免疫球蛋白後皆得以改善。其并發症包括三位支氣管擴張并肺高壓、二位關節僵硬、二位身材矮小及發育不全。 我們的結論是自體免疫疾病在先天性免疫功能不全病患是常見且重要的臨床表現，它可以是首先或唯一的臨床表現。在評估自體免疫疾病患時先天性免疫功能不全是必須列入監別診斷之一。
並列摘要
Primary immunodeficiency comprises a heterogeneous group of disorders. Autoimmune and/or rheumatic manifestations are not uncommon in these patients. It may be the first and/or sole sign before the underlying disease is established. This study focuses on the children of primary immunodeficiency with autoimmune disease to survey the clinical and laboratory finding retrospectively. From January 1985 to June 1998, ten patients (M:F=9:1) of primary immunodeficiency with at least one well defined autoimmune disease were identified. The underlying immunodeficiency included three with Bruton's disease, three with common variable immunodeficiency, one with hyper-IgM, one with primary CD4 T-cell deficiency and two with Wiskott-Aldrich syndrome. The autoimmune manifestations include arthritis in six, ulcerative colitis in one, and autoimmune hemolytic anemia in three children. The major treatment was steroid and non-steroid anti-inflammatory drug. Infection could be controlled with antibiotics and intravenous immunoglobulin in all save one. The morbidily among these patients included bronchiectasis with pulmonary hypertension in three, joint stiffness, short stature, and delayed puberty in two. In conclusion, autoimmune diseases are frequently seen in patients with primary immunodeficiency. It could be the first and/or sole sign of disease. The possibility of immunodeficiency should be kept in mind when evaluating patients with autoimmune diseases.