Avtor/Urednik		Kotnik, V; Lužnik-Bufon, T; Schneider, P; Kirschfink, M
Naslov		Complement analysis in a family with C8 beta-chain deficiency
Tip		članek
Vir		Exp Clin Immunogenet
Vol. in št.		Letnik 14, št. 62
Leto izdaje		1997
Jezik		eng
Abstrakt		C8 deficiency is associated with an increased susceptibility to Neisseria infections. We here describe a 13 years old boy who suffered from purulent meningococcal infection. Anamnesis of the patients 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. Haemolytic activity of the classical (CH50) and the alternative (APH50) pathways of complement were undetectable. Further analysis by highly sensitive ELISA and functional assays revealed a complete deficiency of C8. Consequently, no SC5b-9 protein complexes could be detected in the patient's plasma. Upon reconstitution with purified C8 total haemolytic activity could be restored. SDS-PAGE and Western blot analysis established a deficiency of the c8beta-chain. Both asymptomatic parents presented with about half-normal C8 titters, indicating the hereditary trait of the deficiency. One of the two asymptomatic sisters presented with the same complete C8beta-chain deficiency. Evidence for the presence of the common C/T mutation in the C8beta gene of both deficient siblings has been obtained by PCR analysis. DNA sequencing is currently performed to confirm and further specify the molecular basis of the deficiency.
Deskriptorji		COMPLEMENT 8