Genetic linkage of hyper-IgE syndrome to chromosome 4
Genetic linkage of hyper-IgE syndrome to chromosome 4
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DOI：
10.1086/302547
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发表时间：
1999-09-01
影响因子：
9.8
通讯作者：
Puck, JM
中科院分区：
文献类型：
--
作者：
Grimbacher, B;Schäffer, AA;Puck, JM
高IgE综合征（HIES）是一种罕见的原发性免疫缺陷，以复发性皮肤脓肿、肺炎和血清IgE水平高升高为特征。HIES现在被认为是一种多系统疾病，伴有牙列、骨骼和结缔组织的非免疫性异常。HIES可以作为常染色体显性遗传，具有可变的表达性。对19种多例HIES病例进行临床和实验室评分，并在人4号染色体候选区域用多态性标记进行基因分型。连锁分析显示，在D4S428标记的重组分数为0时，最大2点LOD评分为3.61。多点分析和模拟测试证实，近4q区域包含HIES的疾病位点。
The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as an autosomal dominant trait with variable expressivity. Nineteen kindreds with multiple cases of HIES were scored for clinical and laboratory findings and were genotyped with polymorphic markers in a candidate region on human chromosome 4. Linkage analysis showed a maximum two-point LOD score of 3.61 at recombination fraction of 0 with marker D4S428. Multipoint analysis and simulation testing confirmed that the proximal 4q region contains a disease locus for HIES.