NEUTROPHIL FC-GAMMA-RIIIB DEFICIENCY, NATURE, AND CLINICAL CONSEQUENCES - A STUDY OF 21 INDIVIDUALS FROM 14 FAMILIES
NEUTROPHIL FC-GAMMA-RIIIB DEFICIENCY, NATURE, AND CLINICAL CONSEQUENCES - A STUDY OF 21 INDIVIDUALS FROM 14 FAMILIES
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DOI：
10.1182/blood.v86.6.2403.bloodjournal8662403
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发表时间：
1995-09-15
期刊：
影响因子：
20.3
通讯作者：
VONDEMBORNE, AEGK
中科院分区：
文献类型：
--
作者：
DEHAAS, M;KLEIJER, M;VONDEMBORNE, AEGK
已经描述了一些人，其中性粒细胞缺乏通常表达的IgG FC伽马受体IIIB（FC Gamma riiib）。现在，我们研究了负责任的基因组缺陷，并详细分析了在14个无关家族中鉴定出的21个FC Gamma RIIIB阴性供体的详细介绍，我们开发了一个聚合酶链反应反应特异性释放的基因型，用于基因型的Na多态性。伽玛riiib基因。使用基于Southern印迹的限制性片段长度多态性测定法，确认了所有FC Gamma RIIIB缺陷型个体对NA1和Na2等位基因均为阴性。此外，还发现了下一个位于FC Gamma riic基因的下一个端粒体的额外删除。家庭研究表明，在6个家庭中，父母双方都没有至少一个FC Gamma riiib等位基因，而在2个家庭中，父亲患有正常的表型，两个人患有自身免疫性甲状腺炎。有四个人患有多次感染发作，其中3人只有偶然的感染，而14人从未感染任何严重的感染。基因分型显示FCγriIIB阴性个体之间的FC伽马RIIA表型分布正常，因此排除了有利的IgG（2）的存在可能性的可能性，这有助于fc gamma riia（131-H）有助于FC Gamma RIIA（131-H）总体上没有复发细菌感染。 （c）1995年美国血液学学会。
Several individuals have been described whose neutrophils lack the normally abundantly expressed IgG Fc gamma receptor IIIb (Fc gamma RIIIb). We now studied the responsible genomic defect and analyzed the medical history in detail of 21 Fc gamma RIIIb-negative donors identified in 14 unrelated families, We developed a polymerase chain reaction allele-specific-primer annealing assay to genotype for the NA polymorphism of the Fc gamma RIIIB gene. All Fc gamma RIIIb-deficient individuals were negative for both the NA1 and the NA2 allele, In all cases the complete absence of the Fc gamma RIIIB alleles was confirmed using a Southern blot-based restriction fragment length polymorphism assay. Furthermore, an additional deletion of the next more telomeric located Fc gamma RIIC gene was found. Family studies showed that at least one Fc gamma RIIIB allele was absent in both parents in 6 families, whereas in 2 families the father had a normal phenotype, Two individuals suffered from an autoimmune thyroiditis. Four individuals had had multiple episodes of infection, 3 had only incidental infections, and 14 never had any serious infection. Genotyping showed a normal Fc gamma RIIa phenotype distribution among the Fc gamma RIIIb-negative individuals, thus excluding the possibility that the presence of the favorable IgG(2)-binding low-responder isoform of Fc gamma RIIa (131-H) contributed to the overall absence of recurrent bacterial infections. (C) 1995 by The American Society of Hematology.