caa a22 4500 475748298 CHVBK 20180406123519.0 cr unu---uuuuu 170329e20000501xx s 000 0 eng 10.1023/A:1006693614974 doi (NATIONALLICENCE)springer-10.1023/A:1006693614974 The [HLA-B18, F1C30, DR3] Conserved Extended Haplotype Carries a Susceptibility Gene for IgD Deficiency [Elektronische Daten] [Bego~na Calvo, Luis Casta~no, Deborah Marcus-Bagley, Dolores Fici, Zuheir Awdeh, Chester Alper] We showed previously that the conserved extended MHC haplotype [HLA-B8, SC01, DR3] carries recessive susceptibility genes for IgA and IgG4 deficiency and dominant genes for IgD and IgG3 deficiency. [HLA-B18, F1C30, DR3] has similar class II and III regions to [HLA-B8, SC01, DR3] and is common in the Basques. We therefore studied serum immunoglobulin concentrations in Basque homozygotes, heterozygotes, and noncarriers of (F1C30, DRB1*0301, DRB3*02, DQA1*0501, DQB1*0201) (F1C30, DR3). As shown by others, no subjects were deficient in IgA, IgM, or IgG subclasses. In contrast, 29% of homozygotes and three of seven double heterozygotes with (SC01, DRB1*0301, DRB3*0101, DQA1*0501, DQB1*0201) (presumed homozygotes for IgD deficiency susceptibility genes) were IgD deficient. Thus, 32% of presumed homozygotes were IgD deficient compared with 1.6% of noncarriers. Of haplotype heterozygotes, 25% were IgD deficient. The high frequency of IgD deficiency in both homozygotes and heterozygotes for (F1C30, DR3) suggests a partially penetrant dominant susceptibility gene for IgD deficiency on [HLA-B18, F1C30, DR3]. Plenum Publishing Corporation, 2000 IgD deficiency nationallicence MHC nationallicence extended haplotype nationallicence Basques nationallicence Calvo Bego~na The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut Casta~no Luis Hospital de Cruces, Barakaldo, Basque Country, Spain aut Marcus-Bagley Deborah The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut Fici Dolores The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut Awdeh Zuheir The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut Alper Chester The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut Journal of Clinical Immunology Kluwer Academic Publishers-Plenum Publishers 20/3(2000-05-01), 216-220 0271-9142 20:3<216 2000 20 10875 https://doi.org/10.1023/A:1006693614974 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1023/A:1006693614974 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Calvo Bego~na The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut NATIONALLICENCE 700 1- Casta~no Luis Hospital de Cruces, Barakaldo, Basque Country, Spain aut NATIONALLICENCE 700 1- Marcus-Bagley Deborah The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut NATIONALLICENCE 700 1- Fici Dolores The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut NATIONALLICENCE 700 1- Awdeh Zuheir The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut NATIONALLICENCE 700 1- Alper Chester The Center for Blood Research, Harvard Medical School, 02115, Boston, Massachusetts aut NATIONALLICENCE 773 0- Journal of Clinical Immunology Kluwer Academic Publishers-Plenum Publishers 20/3(2000-05-01), 216-220 0271-9142 20:3<216 2000 20 10875 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer