0000000000021773
AUTHOR
Michael Kirschfink
Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE).
SUMMARY A complete functional deficiency of Clq is described in a patient suffering from SLE. From reduced plasma C1 activity of the parents a hereditary trait was assumed. The defective C1q molecule was haemolytically inactive, did not bind to immune complexes, and was not recognized by the monocyte C1q receptor. C1 activity in the patient's serum could be restored by the addition of purified C1q. Analysis by gelfiltration and ultracentrifugation experiments revealed an immunoreactive molecule of about 150 kD mol. wt, corresponding to one structural subunit of the C1q macromolccule, containing two A chain-B chain dimers and a C-C chain dimer. Applying Southern blot analysis with cDNA clone…
Molecular, genetic, and functional analysis of homozygous C8 beta-chain deficiency in two siblings.
Abstract C8 deficiency is associated with an increased susceptibility to neisserial infections. We present a case of an 11 year old boy who suffered from infection with Neisseria meningitidis . Medical history of the patient and his family ( n = 5) did not indicate any previous immunodeficiency symptoms. Results from the analysis of phagocyte and lymphocyte functions were within the normal range. No hemolytic activities of the classical (CH50) and the alternative (APH50) pathways of complement were measurable, and SC5b-9 protein complexes could not be detected in the patient's plasma. Further analysis by highly sensitive ELISA and functional assays revealed a complete deficiency of C8. Upon…
Analysis of the Immune Status in Latvian Chernobyl Clean-up Workers with Nononcological Thyroid Diseases
The aim of the present work was to characterize the immune status of 385 individuals who participated in the 1986–90 clean-up work of the after effects of the Chernobyl nuclear power plant explosion. Fifty-nine Chernobyl clean-up workers developed the most common thyroid diseases; euthyroid nodular and diffuse goiter; 47 healthy blood donors were taken as controls. The levels of immunoglobulins (IgA, IgG and IgM), the numbers of peripheral blood leukocytes, lymphocytes, monocytes, T lymphocytes and their subpopulations (CD3+, CD4+, CD8+), B lymphocytes (CD19+), natural killer (NK) cells (CD16+), classical and alternative pathway activity of complement (CH50, APH50), the C3 split product C3d…