Oxelius V A
Department of Pediatrics, University Hospital, Lund, Sweden.
Scand J Immunol. 1990 Feb;31(2):243-7. doi: 10.1111/j.1365-3083.1990.tb02765.x.
Lack of G2m(n) was demonstrated in both IgG2-deficient and IgG3-deficient Caucasian patients. Lack of G2m(n) or G2m(",") was found together with homozygosity for both G1m and G3m allotypes as the dominant finding, i.e. for IgG2-deficient patients together with G1m (f,f) and G3m(b,b), constituting the Gm(f,",b) phenotype, and for IgG3-deficient patients together with G1m(a,a) and G3m(g,g), constituting the Gm(a,",g) phenotype. The group with IgG2 deficiency and the selected patients with the Gm(f,",b) phenotype expressed characteristically very low or undetectable IgG4, significantly increased IgG3, and normal IgG1. The group with IgG3 deficiency and the selected patients with the phenotype Gm(a,",g) expressed instead normal IgG4 and nearly normal IgG2 and IgG1 levels. The lack of G2m(n) together with lack of one or the other of the alternative G1m genes and corresponding G3m genes give different IgG2 levels and different IgG subclass patterns. The frequency of G1m allotypes and corresponding G3m allotypes also deviated significantly when the IgG2 deficiency and IgG3 deficiency groups were compared with each other. Most IgG subclass-deficient patients are homozygous in the Gm system and lack genetic variants in the three IgG subclasses, IgG1, IgG2, and IgG3.
在IgG2缺陷型和IgG3缺陷型白种人患者中均证实缺乏G2m(n)。缺乏G2m(n)或G2m(“,”)与G1m和G3m所有同种异型的纯合性一起被发现是主要发现,即对于IgG2缺陷型患者,与G1m(f,f)和G3m(b,b)一起,构成Gm(f,“,b)表型,对于IgG3缺陷型患者,与G1m(a,a)和G3m(g,g)一起,构成Gm(a,“,g)表型。IgG2缺陷组和具有Gm(f,“,b)表型的选定患者特征性地表达非常低或无法检测到的IgG4,IgG3显著增加,IgG1正常。IgG3缺陷组和具有Gm(a,“,g)表型的选定患者则表达正常的IgG4以及几乎正常的IgG2和IgG1水平。缺乏G2m(n)以及缺乏替代G1m基因和相应G3m基因中的一个或另一个会导致不同的IgG2水平和不同的IgG亚类模式。当将IgG2缺陷组和IgG3缺陷组相互比较时,G1m同种异型和相应G3m同种异型的频率也有显著差异。大多数IgG亚类缺陷患者在Gm系统中是纯合的,并且在三个IgG亚类IgG1、IgG2和IgG3中缺乏基因变体。