[Disorders in humoral defense: clinical aspects, diagnosis and therapy].
Clinical and immunological findings of 5 patients with distinct defects in either humoral immunity or in the complement system are described. The syndromes presented comprise examples of type I dysimmunoglobulinaemia, X-linked agammaglobulinaemia (XLA), familial deficiency of complement factor C1q and a patient with a selective deficiency in the synthesis of antibodies against pneumococcal polysaccharides. The patients with a defect in humoral immunity all showed recurrent bacterial infections of the respiratory tract. The XLA-patient developed a dermatomyositis-like syndrome and ECHO-virus encephalitis. Prior to the development of a SLE-like syndrome the two siblings with C1q deficiency showed recurrent respiratory tract infections, most probably on basis of a defect in the clearance of immune complexes.
Kuis
W
W
Afd. Immunologie/Rheumatologie, Universiteitskliniek voor kinderen en jeugdigen Het Wilhelmina Kinderziekenhuis, Utrecht.
de Graeff-Meeder
E R
ER
Rijkers
G T
GT
Stoop
J W
JW
Zegers
B J
BJ
D000293:Adolescent; D000361:Agammaglobulinemia / Q000276:immunology; D000917:Antibody Formation; D002648:Child; D002675:Child, Preschool; D003166:Complement Activating Enzymes / Q000172:deficiency; D003172:Complement C1 / Q000172:deficiency; D015922:Complement C1q; D004406:Dysgammaglobulinemia / Q000276:immunology; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008297:Male; D011135:Polysaccharides, Bacterial / Q000276:immunology; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000276:immunology; D013296:Streptococcus pneumoniae / Q000276:immunology
D003172:Complement C1; D011135:Polysaccharides, Bacterial; D015922:Complement C1q; D003166:Complement Activating Enzymes
Stoornissen in de humorale afweer: kliniek, diagnostiek en therapie.