caa a22 4500 469033339 CHVBK 20180323132749.0 cr unu---uuuuu 170328e19920901xx s 000 0 eng 10.1007/BF00218046 doi (NATIONALLICENCE)springer-10.1007/BF00218046 Involvement of both HLA and Ig heavy chain haplotypes in human IgA deficiency [Elektronische Daten] [Per Olsson, Lennart Hammarström, Diane Cox, C. Smith] Immunoglobulin-A deficiency (IgA-D) is the most common human Ig class deficiency with an estimated frequency of approximately 1 in 500 in the Swedish population. We investigated the immunoglobulin heavy chain constant region gene segments (IGHC) in 103 individuals with IgA-D and the immunoglobulin heavy chain variable region gene segments (IGHV) in 20 of these, in order to identify a possible molecular basis of the defect. No deletions of IGHV gene segments of the VH2, VH5, and VH6 families or the IGHG genes were observed. In the IGHC, there were, however, differences in the restriction fragment length polymorphism frequencies of IGHG genes where the Bam HI haplotype "H2” [IGHGP, 10 kilobases (kb), IGHG2, 25 kb; and IGHG4, 9.0 kb] was overrepresented. The mean serum levels of IgG4 and IgE were significantly lower in individuals (both IgA-D subjects and healthy controls) homozygous for the H2 haplotype than in individuals homozygous for the H1 haplotype (IGHGP, 8.8 kb, IGHG2, 13.5 kb, and IGHG4, 9.4 kb). IgA-D subjects homozygous for HLADQB1*0201 (DQw2), a marker that has previously been reported to show a strong association with IgA deficiency, showed a similar reduction of serum levels of IgG4 and IgE as compared with DQB1*0201 negative IgA-D subjects. These findings suggest that the two loci found to be associated with IgA deficiency may act via a common pathway. Springer-Verlag, 1992 Olsson Per Center for Biotechnology, Karolinska Institute, NOVUM, S-141 57, Huddinge, Sweden aut Hammarström Lennart Center for Biotechnology, Karolinska Institute, NOVUM, S-141 57, Huddinge, Sweden aut Cox Diane Research Institute, The Hospital For Sick Children, M5G 1X8, Toronto, Ontario, Canada aut Smith C. Center for Biotechnology, Karolinska Institute, NOVUM, S-141 57, Huddinge, Sweden aut Immunogenetics Springer-Verlag 36/6(1992-09-01), 389-395 0093-7711 36:6<389 1992 36 251 https://doi.org/10.1007/BF00218046 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00218046 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Olsson Per Center for Biotechnology, Karolinska Institute, NOVUM, S-141 57, Huddinge, Sweden aut NATIONALLICENCE 700 1- Hammarström Lennart Center for Biotechnology, Karolinska Institute, NOVUM, S-141 57, Huddinge, Sweden aut NATIONALLICENCE 700 1- Cox Diane Research Institute, The Hospital For Sick Children, M5G 1X8, Toronto, Ontario, Canada aut NATIONALLICENCE 700 1- Smith C. Center for Biotechnology, Karolinska Institute, NOVUM, S-141 57, Huddinge, Sweden aut NATIONALLICENCE 773 0- Immunogenetics Springer-Verlag 36/6(1992-09-01), 389-395 0093-7711 36:6<389 1992 36 251 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer