Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome

被引:64
作者
Cheng, Laurence E. [1 ,2 ]
Kanwar, Bittoo [1 ,4 ]
Tcheurekdjian, Haig [1 ,2 ,4 ]
Grenert, James P. [3 ]
Muskat, Mica [1 ]
Heyman, Melvin B. [1 ]
McCune, Joseph M. [2 ,4 ]
Wara, Diane W. [1 ]
机构
[1] Univ Calif San Francisco, San Francisco Sch Med, Dept Pediat, San Francisco, CA 94143 USA
[2] Univ Calif San Francisco, San Francisco Sch Med, Dept Med, San Francisco, CA 94143 USA
[3] Univ Calif San Francisco, San Francisco Sch Med, Dept Pathol, San Francisco, CA 94143 USA
[4] Univ Calif San Francisco, San Francisco Sch Med, Div Expt Med, San Francisco, CA 94143 USA
关键词
Autoimmunity; Immunodeficiency; NEMO; Enteritis; Colitis; Inflammatory bowel disease; NF-kappa B; IKK gamma; FACTOR-KAPPA-B; ERYTHROCYTE SEDIMENTATION-RATE; ESSENTIAL MODULATOR MUTATION; C-REACTIVE PROTEIN; INHERITED DISORDERS; CROHNS-DISEASE; BOWEL-DISEASE; T-CELLS; ECTODERMAL DYSPLASIA; IKK-GAMMA;
D O I
10.1016/j.clim.2009.03.514
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
071005 [微生物学]; 100108 [医学免疫学];
摘要
The NEMO syndrome is a primary immunodeficiency with immune and non-immune manifestations. The immune deficiency is heterogeneous showing defects in humoral, innate, and cell-mediated immunity. While the clinical aspects of the immunodeficiency are increasingly well understood, little is known about autoimmune manifestations in NEMO patients. We therefore sought to examine serologic markers of systemic inflammation and intestinal pathology in a kindred of patients with the NEMO syndrome. We observed persistent elevation of erythrocyte sedimentation rates in five patients, and two were symptomatic, with a chronic but atypical enterocolitis. Though pathologic lesions in these two patients were consistent with acute inflammation, sustained clinical improvement was only achieved with systemic and/or topical glucocorticoid therapy. Our data suggest that some patients with the NEMO syndrome exhibit persistent elevation of inflammatory markers similar to systemic autoimmune diseases and may subsequently develop an atypical enterocolitis. (C) 2009 Elsevier Inc. All rights reserved.
引用
收藏
页码:124 / 131
页数:8
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