Klein C, Lisowska-Grospierre B, LeDeist F, Fischer A, Griscelli C
Hôpital Necker Enfants Malades, Unité d'Immunologie et d'Hématologie, Paris, France.
J Pediatr. 1993 Dec;123(6):921-8. doi: 10.1016/s0022-3476(05)80388-9.
Major histocompatibility complex class II deficiency (bare lymphocyte syndrome) is a rare primary immunodeficiency disorder characterized by profound defects in human leukocyte antigen class II expression, inconsistent and incomplete expression of human leukocyte antigen class I molecules, and a complete lack of cellular and humoral immune responses to foreign antigens. To define the clinical and immunologic characteristics, outcome, and natural history of major histocompatibility complex class II deficiency, we retrospectively analyzed 30 consecutive patients. Clinical onset occurred in the first year of life, usually involving recurrent bronchopulmonary infections and chronic diarrhea. The clinical course was complicated by viral meningoencephalitis, hepatitis, cholangitis, and various autoimmune phenomena. Prognosis was very poor: the mean age at the time of death was 4 years. The main cause of death was overwhelming viral infection. Recent advances in bone marrow transplantation have raised hopes of curative treatment: 6 of 14 patients who underwent bone marrow transplantation were cured. Long-term survival after human leukocyte antigen-identical and haploidentical bone marrow transplantation seemed to depend primarily on the presence of preexisting viral infections.
主要组织相容性复合体II类缺陷（裸淋巴细胞综合征）是一种罕见的原发性免疫缺陷病，其特征为人类白细胞抗原II类表达存在严重缺陷、人类白细胞抗原I类分子表达不一致且不完全，以及对外来抗原完全缺乏细胞免疫和体液免疫反应。为了明确主要组织相容性复合体II类缺陷的临床和免疫学特征、转归及自然病史，我们对30例连续病例进行了回顾性分析。临床发病于生命的第一年，通常表现为反复的支气管肺部感染和慢性腹泻。临床病程因病毒性脑膜脑炎、肝炎、胆管炎及各种自身免疫现象而复杂化。预后非常差：死亡时的平均年龄为4岁。主要死亡原因是严重的病毒感染。骨髓移植的最新进展带来了治愈性治疗的希望：14例接受骨髓移植的患者中有6例被治愈。人类白细胞抗原相合及半相合骨髓移植后的长期存活似乎主要取决于既往是否存在病毒感染。
