Common variable immunodeficiency and IgG subclass deficiency in central XXXX probands homozygous for HFE @entity14399 .

@entity1 @entity3172 @entity68 @entity1529 @entity6078 @entity23694 @entity69 @entity281 @entity7491 @entity14399 @entity2149 @entity9595
Eight @entity9595 probands with HFE @entity14399 homozygosity had frequent, severe, or @entity281 and @entity6078 ( @entity6078 ) or immunoglobulin (Ig) G subclass deficiency (IgGSD). Thus, we performed serum Ig isotyping and other characterization of 43 additional unselected probands, 5 human leukocyte antigen (HLA)-identical siblings, and 240 consecutive @entity6078 or IgGSD index @entity1 . @entity14399 allele frequencies were estimated in 58 @entity6078 or IgGSD index @entity1 without @entity9595 phenotypes and in 341 controls. @entity2149 haplotypes and frequencies were determined in all 51 probands, 186 @entity6078 or IgGSD index @entity1 without @entity9595 phenotypes, and 751 controls. Thirteen unselected probands (30%) had @entity6078 or IgGSD. Among all 21 @entity9595 probands with @entity6078 (n = 4) or IgGSD (n = 17), Ig subclass deficiency patterns were IgG(1) (n = 5), IgG(1) and @entity3172 (n = 6), @entity3172 (n = 9), and IgG(1), @entity3172 ), and IgG(4) (n = 1). IgG(2) or @entity7491 was not detected; one proband had @entity23694 . Mean values of total IgG, IgG(1), and @entity3172 were significantly lower in probands with @entity6078 or IgGSD. Mean values of age, @entity69 saturation, and ferritin at diagnosis and phlebotomy units required to induce @entity68 depletion were similar in probands with or without @entity6078 or IgGSD; phlebotomy had no apparent effect on IgG levels. @entity14399 frequencies were similar in @entity6078 or IgGSD index cases without @entity9595 phenotypes and in controls. There was concordance of Ig and @entity9595 phenotypes in probands and respective HLA-identical siblings. Eight of 240 @entity6078 or IgGSD index @entity1 had @entity9595 phenotypes and @entity14399 homozygosity (3 vs 0.7% and 0.2% controls; P < 0.0001, respectively). The frequency of A*03-B*07 was greater in @entity6078 and IgGSD index cases without @entity9595 phenotypes than in controls (0.0968 vs 0.0546, respectively; P = 0.0032). @entity1529 *03-B*07 was the predominant haplotype in probands grouped by presence or absence of @entity6078 or IgGSD. Some probands in each group were A*03-B*07 homozygotes; group A*03-B*07 frequencies were similar. We conclude that serum IgG abnormalities characteristic of @entity6078 or IgGSD are common in @entity9595 probands, and that the prevalence of @entity9595 is increased in @entity6078 and IgGSD index cases. These observations could be explained by the increased frequencies of @entity1529 *03-B*07 in @entity14399 homozygotes and in @entity6078 and IgGSD, and by the common occurrence of putative @entity6078 or IgGSD allele(s) on haplotypes bearing @entity14399 .
