A familial dysfunction of the eighth component of complement (C8)

F. Tedesco, M. Bardare, A. M. Giovanetti, G. Sirchia

Research output: Contribution to journalArticle

Abstract

A 6-year-old boy, who presented with hepatosplenomegaly, moderately elevated erythrocyte sedimentation rate, hypergammaglobulinemia, and eosinophilia, was found to have very low or undetectable serum C8 hemolytic activity. This activity was restored to normal by the addition of purified C8. Material cross-reacting antigenically with C8 was present in the serum and showed reaction of partial identity with normal C8 by immunodiffusion analysis. Similar findings were observed in an apparently healthy sibling. Further investigations on the altered C8 molecule proved its inability to induce consumption of C9 in the deficient serum following activation of the alternative pathway by inulin. Both deficient sera also contained an inhibitor, which was active only on partially purified C8 used at low concentration or on diluted normal human serum. The inhibiting activity was detected in the exclusion peak of Sephadex G-200 gel filtration and was specifically removed by an anti-human C5 antiserum. Family studies showed normal hemolytic activities and antigenic levels of C8 in both parents and three other siblings of the propositus. Linkage studies of the C8 abnormality to HLA, Bf, C3, and C7 were uninformative, whereas linkage to C6 was excluded.

Original languageEnglish
Pages (from-to)180-191
Number of pages12
JournalClinical Immunology and Immunopathology
Volume16
Issue number2
DOIs
Publication statusPublished - 1980

Fingerprint

Complement C8
Serum
Siblings
Hypergammaglobulinemia
Inulin
Immunodiffusion
Blood Sedimentation
Eosinophilia
Gel Chromatography
Immune Sera
Parents

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy
  • Pathology and Forensic Medicine

Cite this

A familial dysfunction of the eighth component of complement (C8). / Tedesco, F.; Bardare, M.; Giovanetti, A. M.; Sirchia, G.

In: Clinical Immunology and Immunopathology, Vol. 16, No. 2, 1980, p. 180-191.

Research output: Contribution to journalArticle

Tedesco, F. ; Bardare, M. ; Giovanetti, A. M. ; Sirchia, G. / A familial dysfunction of the eighth component of complement (C8). In: Clinical Immunology and Immunopathology. 1980 ; Vol. 16, No. 2. pp. 180-191.
@article{3e124fc8c4394bc6ad89b42bee5a03c8,
title = "A familial dysfunction of the eighth component of complement (C8)",
abstract = "A 6-year-old boy, who presented with hepatosplenomegaly, moderately elevated erythrocyte sedimentation rate, hypergammaglobulinemia, and eosinophilia, was found to have very low or undetectable serum C8 hemolytic activity. This activity was restored to normal by the addition of purified C8. Material cross-reacting antigenically with C8 was present in the serum and showed reaction of partial identity with normal C8 by immunodiffusion analysis. Similar findings were observed in an apparently healthy sibling. Further investigations on the altered C8 molecule proved its inability to induce consumption of C9 in the deficient serum following activation of the alternative pathway by inulin. Both deficient sera also contained an inhibitor, which was active only on partially purified C8 used at low concentration or on diluted normal human serum. The inhibiting activity was detected in the exclusion peak of Sephadex G-200 gel filtration and was specifically removed by an anti-human C5 antiserum. Family studies showed normal hemolytic activities and antigenic levels of C8 in both parents and three other siblings of the propositus. Linkage studies of the C8 abnormality to HLA, Bf, C3, and C7 were uninformative, whereas linkage to C6 was excluded.",
author = "F. Tedesco and M. Bardare and Giovanetti, {A. M.} and G. Sirchia",
year = "1980",
doi = "10.1016/0090-1229(80)90202-0",
language = "English",
volume = "16",
pages = "180--191",
journal = "Clinical Immunology and Immunopathology",
issn = "0090-1229",
publisher = "Academic Press Inc.",
number = "2",

}

TY - JOUR

T1 - A familial dysfunction of the eighth component of complement (C8)

AU - Tedesco, F.

AU - Bardare, M.

AU - Giovanetti, A. M.

AU - Sirchia, G.

PY - 1980

Y1 - 1980

N2 - A 6-year-old boy, who presented with hepatosplenomegaly, moderately elevated erythrocyte sedimentation rate, hypergammaglobulinemia, and eosinophilia, was found to have very low or undetectable serum C8 hemolytic activity. This activity was restored to normal by the addition of purified C8. Material cross-reacting antigenically with C8 was present in the serum and showed reaction of partial identity with normal C8 by immunodiffusion analysis. Similar findings were observed in an apparently healthy sibling. Further investigations on the altered C8 molecule proved its inability to induce consumption of C9 in the deficient serum following activation of the alternative pathway by inulin. Both deficient sera also contained an inhibitor, which was active only on partially purified C8 used at low concentration or on diluted normal human serum. The inhibiting activity was detected in the exclusion peak of Sephadex G-200 gel filtration and was specifically removed by an anti-human C5 antiserum. Family studies showed normal hemolytic activities and antigenic levels of C8 in both parents and three other siblings of the propositus. Linkage studies of the C8 abnormality to HLA, Bf, C3, and C7 were uninformative, whereas linkage to C6 was excluded.

AB - A 6-year-old boy, who presented with hepatosplenomegaly, moderately elevated erythrocyte sedimentation rate, hypergammaglobulinemia, and eosinophilia, was found to have very low or undetectable serum C8 hemolytic activity. This activity was restored to normal by the addition of purified C8. Material cross-reacting antigenically with C8 was present in the serum and showed reaction of partial identity with normal C8 by immunodiffusion analysis. Similar findings were observed in an apparently healthy sibling. Further investigations on the altered C8 molecule proved its inability to induce consumption of C9 in the deficient serum following activation of the alternative pathway by inulin. Both deficient sera also contained an inhibitor, which was active only on partially purified C8 used at low concentration or on diluted normal human serum. The inhibiting activity was detected in the exclusion peak of Sephadex G-200 gel filtration and was specifically removed by an anti-human C5 antiserum. Family studies showed normal hemolytic activities and antigenic levels of C8 in both parents and three other siblings of the propositus. Linkage studies of the C8 abnormality to HLA, Bf, C3, and C7 were uninformative, whereas linkage to C6 was excluded.

UR - http://www.scopus.com/inward/record.url?scp=0018908273&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018908273&partnerID=8YFLogxK

U2 - 10.1016/0090-1229(80)90202-0

DO - 10.1016/0090-1229(80)90202-0

M3 - Article

C2 - 7379355

AN - SCOPUS:0018908273

VL - 16

SP - 180

EP - 191

JO - Clinical Immunology and Immunopathology

JF - Clinical Immunology and Immunopathology

SN - 0090-1229

IS - 2

ER -