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Volumn 163, Issue 4, 1999, Pages 2236-2242

A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: Evidence from meiotic mapping of 83 multiple-case families

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G2; IMMUNOGLOBULIN G4; IMMUNOGLOBULIN M;

EID: 0345425060     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (13)

References (77)
  • 2
    • 0016915628 scopus 로고
    • Familial clustering of IgA deficiency
    • Koistinen, J. 1976. Familial clustering of IgA deficiency. Vox Sang. 30:181.
    • (1976) Vox Sang. , vol.30 , pp. 181
    • Koistinen, J.1
  • 6
    • 0022437882 scopus 로고
    • IgG subclass levels in the serum of patients with primary immunodeficiency
    • Wedgwood, R. J., H. D. Ochs, and V. A. Oxelius. 1986. IgG subclass levels in the serum of patients with primary immunodeficiency. Monogr. Allergy 20:80.
    • (1986) Monogr. Allergy , vol.20 , pp. 80
    • Wedgwood, R.J.1    Ochs, H.D.2    Oxelius, V.A.3
  • 7
    • 0031006633 scopus 로고    scopus 로고
    • Age-related changes in serum immunoglobulins in patients with familial IgA deficiency and common variable immunodeficiency (CVID)
    • Johnson, M. L., L. G. Keeton, Z.-B. Zhu, J. E. Volanakis, M. D. Cooper, and H. W. Schroeder, Jr. 1997. Age-related changes in serum immunoglobulins in patients with familial IgA deficiency and common variable immunodeficiency (CVID). Clin. Exp. Immunol. 108:477.
    • (1997) Clin. Exp. Immunol. , vol.108 , pp. 477
    • Johnson, M.L.1    Keeton, L.G.2    Zhu, Z.-B.3    Volanakis, J.E.4    Cooper, M.D.5    Schroeder H.W., Jr.6
  • 10
    • 0014420709 scopus 로고
    • IgA and partial deletions of chromosome 18
    • Feingold, M., and R. S. Schwartz. 1968. IgA and partial deletions of chromosome 18. Lancet 2:1086.
    • (1968) Lancet , vol.2 , pp. 1086
    • Feingold, M.1    Schwartz, R.S.2
  • 11
  • 12
    • 0017205899 scopus 로고
    • Numerical and structural anomalies of chromosome no. 18
    • Aksu, F., C. Mietens, and W. Scholz. 1976. Numerical and structural anomalies of chromosome no. 18. Klin. Padiatr. 183:220.
    • (1976) Klin. Padiatr. , vol.183 , pp. 220
    • Aksu, F.1    Mietens, C.2    Scholz, W.3
  • 13
    • 0014525650 scopus 로고
    • IgA absence associated with short arm deletion of chromosome no. 18
    • Ruvalcaba, R. H., and H. C. Thuline. 1969. IgA absence associated with short arm deletion of chromosome no. 18. J. Pediatr. 74:964.
    • (1969) J. Pediatr. , vol.74 , pp. 964
    • Ruvalcaba, R.H.1    Thuline, H.C.2
  • 14
    • 0345331337 scopus 로고
    • A study of IgA, G and M in five cases of partial deletion of chromosome 18
    • de Grouchy, J., and F. Danon. 1969. A study of IgA, G and M in five cases of partial deletion of chromosome 18. Ann. Genet. 12:99.
    • (1969) Ann. Genet. , vol.12 , pp. 99
    • De Grouchy, J.1    Danon, F.2
  • 17
    • 0015611403 scopus 로고
    • Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18
    • Leisti, J., S. Leisti, J. Perheentupa, E. Savilahti, and P. Aula. 1973. Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. Arch. Dis. Child. 48:320.
    • (1973) Arch. Dis. Child. , vol.48 , pp. 320
    • Leisti, J.1    Leisti, S.2    Perheentupa, J.3    Savilahti, E.4    Aula, P.5
  • 18
    • 0027954045 scopus 로고
    • IgA deficiency associated with growth hormone deficiency in a boy with short arm deletion of chromosome 18 (46,XY, 18p-)
    • Gul, D., B. S. Sayli, F. Gok, and E. Gokcay. 1994. IgA deficiency associated with growth hormone deficiency in a boy with short arm deletion of chromosome 18 (46,XY, 18p-). Ann. Genet. 37:82.
    • (1994) Ann. Genet. , vol.37 , pp. 82
    • Gul, D.1    Sayli, B.S.2    Gok, F.3    Gokcay, E.4
  • 19
    • 0014403885 scopus 로고
    • IgA and partial deletions of chromosome 18
    • Stewart, J., S. Go, E. Ellis, and A. Robinson. 1968. IgA and partial deletions of chromosome 18. Lancet 2:779.
    • (1968) Lancet , vol.2 , pp. 779
    • Stewart, J.1    Go, S.2    Ellis, E.3    Robinson, A.4
  • 22
    • 0014974374 scopus 로고
    • Clinical and chromosomal studies of the 18q-syndrome
    • Wertelecki, W., and P. S. Gerlad. 1971. Clinical and chromosomal studies of the 18q-syndrome. J. Pediatr. 78:44.
    • (1971) J. Pediatr. , vol.78 , pp. 44
    • Wertelecki, W.1    Gerlad, P.S.2
  • 23
    • 0019155613 scopus 로고
    • Selective IgA deficiency with 18q+ and 18q-karyotypic anomalies
    • Lewkonia, R. M., C. C. Lin, and R. H. Haslam. 1980. Selective IgA deficiency with 18q+ and 18q-karyotypic anomalies. J. Med. Genet. 17:453.
    • (1980) J. Med. Genet. , vol.17 , pp. 453
    • Lewkonia, R.M.1    Lin, C.C.2    Haslam, R.H.3
  • 24
    • 0015314038 scopus 로고
    • Deletion of the long arms of chromosome 18 (46,XX, 18q-) associated with absence of IgA and hypothyroidism in an adult
    • Faed, M. J., R. Whyte, C. R. Paterson, M. McCathie, and J. Robertson. 1972. Deletion of the long arms of chromosome 18 (46,XX, 18q-) associated with absence of IgA and hypothyroidism in an adult. J. Med. Genet. 9:102.
    • (1972) J. Med. Genet. , vol.9 , pp. 102
    • Faed, M.J.1    Whyte, R.2    Paterson, C.R.3    McCathie, M.4    Robertson, J.5
  • 25
    • 0018630218 scopus 로고
    • Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]
    • Wilson, M. G., J. W. Towner, I. Forsman, and E. Siris. 1979. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am. J. Med. Genet. 3:155.
    • (1979) Am. J. Med. Genet. , vol.3 , pp. 155
    • Wilson, M.G.1    Towner, J.W.2    Forsman, I.3    Siris, E.4
  • 27
    • 0014891720 scopus 로고
    • Ring-chromosome 18 and IgA deficiency in a 6-year-old girl (46,XX, 18r)
    • Murken, J. D., G. Salzer, and D. Kunze. 1970. Ring-chromosome 18 and IgA deficiency in a 6-year-old girl (46,XX, 18r). Z. Kinderheil. 109:1.
    • (1970) Z. Kinderheil. , vol.109 , pp. 1
    • Murken, J.D.1    Salzer, G.2    Kunze, D.3
  • 28
    • 0018877395 scopus 로고
    • Selective IgA deficiency: Clinical and immunological evaluation of 50 pediatric patients
    • Burgio, G. R., M. Duse, V. Monafo, A. Ascione, and L. Nespoli. 1980. Selective IgA deficiency: clinical and immunological evaluation of 50 pediatric patients. Eur. J. Pediatr. 133:101.
    • (1980) Eur. J. Pediatr. , vol.133 , pp. 101
    • Burgio, G.R.1    Duse, M.2    Monafo, V.3    Ascione, A.4    Nespoli, L.5
  • 29
    • 0023263160 scopus 로고
    • Chronic arthritis in two children with partial deletion of chromosome 18
    • Petty, R. E., P. Malleson, and D. K. Kalousek. 1987. Chronic arthritis in two children with partial deletion of chromosome 18. J. Rheumatol. 14:586.
    • (1987) J. Rheumatol. , vol.14 , pp. 586
    • Petty, R.E.1    Malleson, P.2    Kalousek, D.K.3
  • 31
    • 0014671028 scopus 로고
    • IgA and partial deletions of chromosome 18
    • Hecht, F. 1969. IgA and partial deletions of chromosome 18. Lancet 1:100.
    • (1969) Lancet , vol.1 , pp. 100
    • Hecht, F.1
  • 32
    • 0017338286 scopus 로고
    • A case report of a presumptive +i(18p) associated with serum IgA deficiency
    • Ogata, K., K. Iinuma, K. Kamimura, R. Morinaga, and J. Kato. 1977. A case report of a presumptive +i(18p) associated with serum IgA deficiency. Clin. Genet. 11:184.
    • (1977) Clin. Genet. , vol.11 , pp. 184
    • Ogata, K.1    Iinuma, K.2    Kamimura, K.3    Morinaga, R.4    Kato, J.5
  • 33
    • 0015094529 scopus 로고
    • Intestinal nodular lymphoid hyperplasia, hypogammaglobulinemia, and hematologic abnormalities in a child with a ring 18 chromosome
    • Michaels, D. L., S. Go, J. R. Humbert, R. S. Dubois, J. M. Stewart, and E. F. Ellis. 1971. Intestinal nodular lymphoid hyperplasia, hypogammaglobulinemia, and hematologic abnormalities in a child with a ring 18 chromosome. J. Pediatr. 79:80.
    • (1971) J. Pediatr. , vol.79 , pp. 80
    • Michaels, D.L.1    Go, S.2    Humbert, J.R.3    Dubois, R.S.4    Stewart, J.M.5    Ellis, E.F.6
  • 34
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • Lander, E. S., and N. J. Schork. 1994. Genetic dissection of complex traits. Science 265:2037.
    • (1994) Science , vol.265 , pp. 2037
    • Lander, E.S.1    Schork, N.J.2
  • 36
    • 0342939570 scopus 로고    scopus 로고
    • Genetic linkage of IgA deficiency to the major histocompatibilily complex: Evidence for allele segregation distortion, parent-of-origin penetrance differences and the role of anti-IgA antibodies in disease predisposition
    • Vořechovský, I., A. D. B. Webster, A. Plebani, and L. Hammarström. 1999. Genetic linkage of IgA deficiency to the major histocompatibilily complex: evidence for allele segregation distortion, parent-of-origin penetrance differences and the role of anti-IgA antibodies in disease predisposition. Am. J. Hum. Genet. 64:1096.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1096
    • Vořechovský, I.1    Webster, A.D.B.2    Plebani, A.3    Hammarström, L.4
  • 37
    • 0017645343 scopus 로고
    • Prevalence of HLA-A1 and HLA-B8 antigens in selective IgA deficiency
    • Ambrus, M., E. Hernadi, and G. Bajtai. 1977. Prevalence of HLA-A1 and HLA-B8 antigens in selective IgA deficiency. Clin. Immunol. Immunopathol. 7:311.
    • (1977) Clin. Immunol. Immunopathol. , vol.7 , pp. 311
    • Ambrus, M.1    Hernadi, E.2    Bajtai, G.3
  • 38
    • 0021225878 scopus 로고
    • HLA antigens in selective IgA deficiency: Distribution in healthy donors and patients with recurrent respiratory tract infections
    • Hammarström, L., U. Axelsson, J. Bjorkander, L. A. Hanson, E. Möller, and C. I. Smith. 1984. HLA antigens in selective IgA deficiency: distribution in healthy donors and patients with recurrent respiratory tract infections. Tissue Antigens 24:35.
    • (1984) Tissue Antigens , vol.24 , pp. 35
    • Hammarström, L.1    Axelsson, U.2    Bjorkander, J.3    Hanson, L.A.4    Möller, E.5    Smith, C.I.6
  • 39
    • 0024414391 scopus 로고
    • Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes
    • Schaffer, F. M., J. Palermos, Z. B. Zhu, B. O. Barger, M. D. Cooper, and J. E. Volanakis. 1989. Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes. Proc. Natl. Acad. Sci. USA 86:8015.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 8015
    • Schaffer, F.M.1    Palermos, J.2    Zhu, Z.B.3    Barger, B.O.4    Cooper, M.D.5    Volanakis, J.E.6
  • 40
    • 0025043117 scopus 로고
    • Different amino acids at position 57 of the HLA-DQ β chain associated with susceptibility and resistance to IgA deficiency
    • Olerup, O., C. I. Smith, and L. Hammarström. 1990. Different amino acids at position 57 of the HLA-DQ β chain associated with susceptibility and resistance to IgA deficiency. Nature 347:289.
    • (1990) Nature , vol.347 , pp. 289
    • Olerup, O.1    Smith, C.I.2    Hammarström, L.3
  • 42
    • 0026483167 scopus 로고
    • Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency
    • Olerup, O., C. I. Smith, J. Björkander, and L. Hammarström. 1992. Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency Proc. Natl. Acad. Sci. USA 89:10653.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 10653
    • Olerup, O.1    Smith, C.I.2    Björkander, J.3    Hammarström, L.4
  • 43
    • 0030663328 scopus 로고    scopus 로고
    • High-resolution DNA typing in immunoglobulin A deficiency confirms a positive association with DRB1*0301, DQB1*02 haplotypes
    • Reil, A., G. Bein, H. K. G. Machulla, B. Sternberg, and M. Seyfarth. 1997. High-resolution DNA typing in immunoglobulin A deficiency confirms a positive association with DRB1*0301, DQB1*02 haplotypes. Tissue Antigens 50:501.
    • (1997) Tissue Antigens , vol.50 , pp. 501
    • Reil, A.1    Bein, G.2    Machulla, H.K.G.3    Sternberg, B.4    Seyfarth, M.5
  • 44
    • 0021058569 scopus 로고
    • Anti-IgA in selective IgA deficiency: In vitro effects and Ig subclass pattern of human anti-IgA
    • Hammarström, L., M. A. Persson, and C. I. Smith. 1983. Anti-IgA in selective IgA deficiency: in vitro effects and Ig subclass pattern of human anti-IgA. Scand. J. Immunol. 18:509.
    • (1983) Scand. J. Immunol. , vol.18 , pp. 509
    • Hammarström, L.1    Persson, M.A.2    Smith, C.I.3
  • 47
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak, L., M. J. Daly, M. P. Reeve-Daly, and E. S. Lander. 1996. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58:1347.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 1347
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 48
    • 0030728925 scopus 로고    scopus 로고
    • Allele-sharing models: LOD scores and accurate linkage tests
    • Kong, A., and N. J. Cox. 1997. Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet. 61:1179.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 1179
    • Kong, A.1    Cox, N.J.2
  • 50
    • 0026736251 scopus 로고
    • Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer
    • Telenius, H., N. P. Carter, C. E. Bebb, M. Nordenskjöld, B. A. J. Ponder, and A. Tunnacliffe. 1992. Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics 13:718.
    • (1992) Genomics , vol.13 , pp. 718
    • Telenius, H.1    Carter, N.P.2    Bebb, C.E.3    Nordenskjöld, M.4    Ponder, B.A.J.5    Tunnacliffe, A.6
  • 51
    • 0028331585 scopus 로고
    • Long-term persistence of selective IgA deficiency in healthy adults
    • Koskinen, S., H. Tolo, M. Hirvonen, and J. Koistinen. 1994. Long-term persistence of selective IgA deficiency in healthy adults. J. Clin. Immunol. 14:116.
    • (1994) J. Clin. Immunol. , vol.14 , pp. 116
    • Koskinen, S.1    Tolo, H.2    Hirvonen, M.3    Koistinen, J.4
  • 60
    • 0345331337 scopus 로고
    • Etud des IgA, G et M dans cinq cas de deletion partielle du chromosome 18
    • de Grouchy, J., and F. Danon. 1969. Etud des IgA, G et M dans cinq cas de deletion partielle du chromosome 18. Ann. Genet. 12:99.
    • (1969) Ann. Genet. , vol.12 , pp. 99
    • De Grouchy, J.1    Danon, F.2
  • 61
    • 0014694422 scopus 로고
    • IgA, IgM, and partial deletion of chromosome 18
    • Haddad, Z. H., R. F. Allen, J. W. Towner, and M. G. Wilson. 1969. IgA, IgM, and partial deletion of chromosome 18. Lancet 1:678.
    • (1969) Lancet , vol.1 , pp. 678
    • Haddad, Z.H.1    Allen, R.F.2    Towner, J.W.3    Wilson, M.G.4
  • 62
    • 0014532450 scopus 로고
    • IgA and partial deletions of chromosome 18
    • Masterson, J. G., and E. M. Law. 1969. IgA and partial deletions of chromosome 18. Ir. J. Med. Sci. 8:265.
    • (1969) Ir. J. Med. Sci. , vol.8 , pp. 265
    • Masterson, J.G.1    Law, E.M.2
  • 63
    • 0014953091 scopus 로고
    • Familial occurrence of 18q-
    • Subrt, I., and J. Pokorny. 1970. Familial occurrence of 18q-. Humangenetik 10:181.
    • (1970) Humangenetik , vol.10 , pp. 181
    • Subrt, I.1    Pokorny, J.2
  • 64
    • 0023155052 scopus 로고
    • Contribution to the 18q-syndrome: A patient with del(18)(q22.3-qter)
    • Felding, I., U. Kristoffersson, H. Sjostrom, and O. Noren. 1987. Contribution to the 18q-syndrome: a patient with del(18)(q22.3-qter). Clin. Genet. 31:206.
    • (1987) Clin. Genet. , vol.31 , pp. 206
    • Felding, I.1    Kristoffersson, U.2    Sjostrom, H.3    Noren, O.4
  • 65
    • 0014671028 scopus 로고
    • IgA and partial deletions of chromosome 18
    • Rudd, N. L., J. B. May, and P. H. LaMarche. 1969. IgA and partial deletions of chromosome 18. Lancet 1:100.
    • (1969) Lancet , vol.1 , pp. 100
    • Rudd, N.L.1    May, J.B.2    LaMarche, P.H.3
  • 67
    • 0020356101 scopus 로고
    • Chromosomal studies in healthy blood donors with IgA deficiency
    • Herrmann, R. P., L. Chipper, and S. Bell. 1982. Chromosomal studies in healthy blood donors with IgA deficiency. Clin. Genet. 22:231.
    • (1982) Clin. Genet. , vol.22 , pp. 231
    • Herrmann, R.P.1    Chipper, L.2    Bell, S.3
  • 68
    • 0030475441 scopus 로고    scopus 로고
    • Immunodeficiency as a component of recognizable syndromes
    • Ming, J. E., E. R. Stiehm, and J. M. Graham, Jr. 1996. Immunodeficiency as a component of recognizable syndromes. Am. J. Med. Genet. 66:378.
    • (1996) Am. J. Med. Genet. , vol.66 , pp. 378
    • Ming, J.E.1    Stiehm, E.R.2    Graham J.M., Jr.3
  • 69
    • 0031833947 scopus 로고    scopus 로고
    • Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (Di-George syndrome/velocardiofacial syndrome)
    • Smith, C. A., D. A. Driscoll, B. S. Emanuel, D. M. McDonald-McGinn, E. H. Zackai, and K. E. Sullivan. 1998. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (Di-George syndrome/velocardiofacial syndrome). Clin. Diagn. Lab. Immunol. 5:415.
    • (1998) Clin. Diagn. Lab. Immunol. , vol.5 , pp. 415
    • Smith, C.A.1    Driscoll, D.A.2    Emanuel, B.S.3    McDonald-McGinn, D.M.4    Zackai, E.H.5    Sullivan, K.E.6
  • 73
    • 0027360386 scopus 로고
    • Chromosomal radiosensitivity in common variable immune deficiency
    • Vořechovský I., D. Scott, M. R. Haeney, and D. A. Webster. 1993. Chromosomal radiosensitivity in common variable immune deficiency. Mutat. Res. 290: 255.
    • (1993) Mutat. Res. , vol.290 , pp. 255
    • Vořechovský, I.1    Scott, D.2    Haeney, M.R.3    Webster, D.A.4
  • 75
    • 0023777763 scopus 로고
    • Growth hormone, suspected gonadotrophin deficiency, and ring 18 chromosome
    • Abusrewil, S. S., A. McDermott, and D. C. L. Savage. 1988. Growth hormone, suspected gonadotrophin deficiency, and ring 18 chromosome. Arch. Dis. Child 63:1090.
    • (1988) Arch. Dis. Child , vol.63 , pp. 1090
    • Abusrewil, S.S.1    McDermott, A.2    Savage, D.C.L.3
  • 76
    • 0002193605 scopus 로고    scopus 로고
    • Immunodeficiency disorders: General considerations
    • E. R. Stiehm, ed. Saunders, New York
    • Conley, M. E., and E. R. Stiehm. 1996. Immunodeficiency disorders: general considerations. In Immunologic Disorders in Infants and Children. E. R. Stiehm, ed. Saunders, New York, p. 201.
    • (1996) Immunologic Disorders in Infants and Children , pp. 201
    • Conley, M.E.1    Stiehm, E.R.2
  • 77
    • 0015442073 scopus 로고
    • A case of the 18p-syndrome
    • Subrt, I., and J. Berankova. 1972. A case of the 18p-syndrome. Humangenetik 16:359.
    • (1972) Humangenetik , vol.16 , pp. 359
    • Subrt, I.1    Berankova, J.2


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