Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.
Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.
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DOI：
10.1371/journal.pone.0078664
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Bosi E
中科院分区：
文献类型：
--
作者：
Lampasona V;Passerini L;Barzaghi F;Lombardoni C;Bazzigaluppi E;Brigatti C;Bacchetta R;Bosi E
肠上皮细胞抗原harmonin（75 kDa USH 1C蛋白）和villin（肌动蛋白结合95 kDa蛋白）的自身抗体与免疫失调、多内分泌病、肠病、X连锁（IPEX）综合征相关。在这项研究中，我们评估了harmonin和villin自身抗体在IPEX和IPEX样综合征中的诊断价值。通过一种新的发光免疫分析系统（LIPS）定量测定，在IPEX、IPEX样综合征、原发性免疫缺陷（PID）伴肠病的患者中测定Harmonin和villin自身抗体，所有患者均通过FOXP 3基因测序诊断，并在1型糖尿病（T1 D）、乳糜泻和健康献血员中作为对照组。在13例IPEX患者中，分别有12例（92%）和6例（46%）检测到Harmonin和villin自身抗体，而在IPEX样、PID、T1 D、乳糜泻患者中均未检测到。所有的IPEX患者，包括一例晚期和非典型临床表现，无论是谐波和/或绒毛自身抗体和肠上皮细胞抗体检测呈阳性间接免疫荧光。当在IPEX患者中测量时，在免疫抑制治疗或造血干细胞移植后缓解，harmonin和绒毛自身抗体变得不可检测或在所有情况下持续低滴度，但其中一个harmonin自身抗体保持恒定高。在一个病人中，harmonin抗体的峰值预示着肠病的复发期。我们的研究表明，harmonin和绒毛自身抗体，LIPS测量，是敏感和特异性标志物的IPEX，区分IPEX，包括非典型病例，从其他早期儿童疾病与肠病，并为受影响的儿童的筛查和临床监测是有用的。
Autoantibodies to enterocyte antigens harmonin (75 kDa USH1C protein) and villin (actin-binding 95 kDa protein) are associated with the Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome. In this study we evaluated the diagnostic value of harmonin and villin autoantibodies in IPEX and IPEX-like syndromes. Harmonin and villin autoantibodies were measured by a novel Luminescent-Immuno-Precipitation-System (LIPS) quantitative assay, in patients with IPEX, IPEX-like syndrome, Primary Immunodeficiencies (PID) with enteropathy, all diagnosed by sequencing of the FOXP3 gene, and in type 1 diabetes (T1D), celiac disease and healthy blood donors as control groups. Harmonin and villin autoantibodies were detected in 12 (92%) and 6 (46%) of 13 IPEX patients, and in none of the IPEX-like, PID, T1D, celiac patients, respectively. All IPEX patients, including one case with late and atypical clinical presentation, had either harmonin and/or villin autoantibodies and tested positive for enterocyte antibodies by indirect immunofluorescence. When measured in IPEX patients in remission after immunosuppressive therapy or hematopoietic stem cell transplantation, harmonin and villin autoantibodies became undetectable or persisted at low titers in all cases but one in whom harmonin autoantibodies remained constantly high. In one patient, a peak of harmonin antibodies paralleled a relapse phase of enteropathy. Our study demonstrates that harmonin and villin autoantibodies, measured by LIPS, are sensitive and specific markers of IPEX, differentiate IPEX, including atypical cases, from other early childhood disorders associated with enteropathy, and are useful for screening and clinical monitoring of affected children.
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影响因子：
16.2
作者：
Burbelo, Peter D.;Hirai, Hiroki;Leahy, Hannah;Lernmark, Ake;Ivarsson, Sten A.;Iadarola, Michael J.;Notkins, Abner Louis
通讯作者：
Notkins, Abner Louis
影响因子：
16.2
作者：
Burbelo PD;Hirai H;Issa AT;Kingman A;Lernmark A;Ivarsson SA;Notkins AL;Iadarola MJ
通讯作者：
Iadarola MJ
影响因子：
15.9
作者：
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通讯作者：
Kim, CH
影响因子：
8.2
作者：
BONIFACIO, E;GENOVESE, S;BOSI, E
通讯作者：
BOSI, E
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7.5
作者：
de Serre, Natacha Patey-Mariaud;Canioni, Danielle;Brousse, Nicole
通讯作者：
Brousse, Nicole