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 language | English |
|---|---|
| Pages (from-to) | 180-191 |
| Number of pages | 12 |
| Journal | Clinical Immunology and Immunopathology |
| Volume | 16 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 1980 |
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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 journal › Article
}
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.
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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 -