title: [An exceptional component C3 deficiency revealed by serum protein electrophoresis].
abstract: We report the case of a 5-years old child referred to the pediatric clinic due to a prolonged history of recurrent otitis. Initial immunologic investigation was normal but a severe C3 complement deficiency was detected by the absence of beta 2-globulin protein fraction using serum protein capillary electrophoresis. C3 was not detected in serum and total complement haemolytic activity was decreased. His mother and father had half of the C3 normal plasma level and a heterozygous mutation of the C3 gene. The diagnosis of hereditary deficiency of the third complement component (C3) with compound heterozygous mutation of the gene was made. This defect in complement protein C3, described to date in only 20 families in the world, is associated with repeated infections. The child is treated with oracillin with relatively good control of symptoms.
authors: Laboratoire de biochimie-institut de biologie, CHU de Nantes, Laboratoire d'immunologie, CHU de Nantes, France. thomas.dejoie@chu-nantes.fr
authors: T
authors: T
authors: Dejoie
authors: M
authors: M
authors: Audrain
authors: K
authors: K
authors: Bach-Ngohou
authors: M
authors: M
authors: Denis
authors: S
authors: S
authors: Legoue-Morillon
authors: C
authors: C
authors: Thomas
authors: D
authors: D
authors: Masson
mesh_terms: D001798:Blood Proteins / Q000302:isolation & purification*; D002675:Child, Preschool; D003176:Complement C3 / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism / Q000627:therapeutic use*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007958:Leukocyte Count; D018655:Lymphocyte Count; D008297:Male; D009154:Mutation; D010031:Otitis / Q000097:blood / Q000276:immunology; D012008:Recurrence; D012016:Reference Values
chemical_list: D001798:Blood Proteins; D003176:Complement C3; D007136:Immunoglobulins