PRENATAL-DIAGNOSIS OF HETEROZYGOUS DEFICIENCY OF THE 2ND COMPONENT OF COMPLEMENT

被引：2
|
作者：
SULLIVAN, KE [1 ]
WINKELSTEIN, JA [1 ]
机构：
[1] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,DIV ALLERGY & IMMUNOL,BALTIMORE,MD 21205
来源：
CLINICAL AND DIAGNOSTIC LABORATORY IMMUNOLOGY | 1994年 / 1卷 / 05期
关键词：
D O I：
10.1128/CDLI.1.5.606-607.1994
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
Genetically determined C2 deficiency predisposes an individual to recurrent and invasive bacterial infections as well as a variety of rheumatic diseases. Most C2-deficient individuals carry the same 28-bp deletion in the sixth exon of the C2 gene. The present article reports the first prenatal analysis of a sibling of a C2-deficient patient; the sibling was found to be a heterozygous carrier of the 28-bp deletion of C2.
引用
收藏
页码：606 / 607
页数：2
相关论文
共 50 条
  • [1] ANAPHYLACTOID PURPURA AND SEVERE GLOMERULONEPHRITIS ASSOCIATED WITH HETEROZYGOUS DEFICIENCY OF THE 2ND COMPONENT OF COMPLEMENT
    DUMAS, R
    MARCHAL, P
    PELTIER, A
    BALDET, P
    MAWAS, C
    JEAN, R
    INTERNATIONAL JOURNAL OF PEDIATRIC NEPHROLOGY, 1980, 1 (03): : 193 - 195
  • [2] WOMENS EXPERIENCES WITH 2ND TRIMESTER PRENATAL-DIAGNOSIS
    VERJAAL, M
    LESCHOT, NJ
    TREFFERS, PE
    PRENATAL DIAGNOSIS, 1982, 2 (03) : 195 - 209
  • [3] 2ND TRIMESTER PRENATAL-DIAGNOSIS OF THE FRAGILE-X
    TOMMERUP, N
    AULA, P
    GUSTAVII, B
    HEIBERG, A
    HOLMGREN, G
    VONKOSKULL, H
    LEISTI, J
    MIKKELSEN, M
    MITELMAN, F
    NIELSEN, KB
    STEINBACH, P
    STENGELRUTKOWSKI, S
    WAHLSTROM, J
    ZANG, K
    ZANKL, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 23 (1-2): : 313 - 324
  • [4] OEIS COMPLEX (CLOACAL EXSTROPHY) - PRENATAL-DIAGNOSIS IN THE 2ND TRIMESTER
    KUTZNER, DK
    WILSON, WG
    HOGGE, WA
    PRENATAL DIAGNOSIS, 1988, 8 (04) : 247 - 253
  • [5] 2ND TRIMESTER PRENATAL-DIAGNOSIS OF THE JARCHO-LEVIN SYNDROME
    TOLMIE, JL
    WHITTLE, MJ
    MCNAY, MB
    GIBSON, AAM
    CONNOR, JM
    PRENATAL DIAGNOSIS, 1987, 7 (02) : 129 - 134
  • [6] PRENATAL-DIAGNOSIS OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY IN THE 1ST AND 2ND TRIMESTERS OF PREGNANCY
    KLEIJER, WJ
    HUSSAARTSODIJK, LM
    LOS, FJ
    PIJPERS, L
    DEBREE, PK
    DURAN, M
    PRENATAL DIAGNOSIS, 1989, 9 (06) : 401 - 407
  • [7] INHERITED DEFICIENCY OF 2ND COMPONENT OF COMPLEMENT - RHEUMATIC DISEASE ASSOCIATIONS
    GLASS, D
    RAUM, D
    GIBSON, D
    STILLMAN, JS
    SCHUR, PH
    JOURNAL OF CLINICAL INVESTIGATION, 1976, 58 (04): : 853 - 861
  • [8] SELECTIVE DEFICIENCY OF 2ND COMPONENT OF COMPLEMENT IN A PATIENT WITH ANAPHYLACTOID PURPURA
    GELFAND, EW
    CLARKSON, JE
    MINTA, JO
    CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1975, 4 (02): : 269 - 276
  • [9] MENINGOCOCCEMIA IN GENETICALLY-DETERMINED DEFICIENCY OF THE 2ND COMPONENT OF COMPLEMENT
    LEGGIADRO, RJ
    WARREN, AB
    SWIFT, AJ
    WINKELSTEIN, JA
    JOURNAL OF INFECTIOUS DISEASES, 1983, 148 (05): : 941 - 941
  • [10] PRENATAL-DIAGNOSIS OF CONGENITAL NEPHROSIS OF THE FINNISH TYPE (CNF) IN THE 2ND TRIMESTER
    SUREN, A
    GRONE, HJ
    KALLERHOFF, M
    WEBER, MH
    ZOLL, B
    OSMERS, R
    INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, 1993, 41 (02) : 165 - 170
12345