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Hereditary Complement Deficiency and Lupus
Author(s) -
KALLELSELLAMI MARYAM,
BAILIKLILA LILIA,
ZERZERI YOUSR,
LAADHAR LILIA,
BLOUIN JACQUES,
ABDELMALEK RIM,
FREMEAUXBACCHI VÉRONIQUE,
ZITOUNI MONDHER,
MAKNI SONDES
Publication year - 2007
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1422.022
Subject(s) - systemic lupus erythematosus , complement (music) , complement deficiency , medicine , immunology , genetics , complement system , biology , antibody , phenotype , gene , disease , complementation
: The aim of the study was to assess the clinical and immunological profile of lupus erythematosus (LE) patients with inherited complement deficiency (ICD). A laboratory‐based study was conducted in which all LE patients with hypocomplementemia were included. ICD was assessed by hemolytic and antigenic assays. Type I C2 deficiency was assessed by polymerase chain reaction (PCR). ICD was diagnosed in four cases. In three systemic LE patients, ICD were: homozygous C2 deficiency in the first case, heterozygous C2 deficiency in the second, and homozygous C1q deficiency in the third case. In a discoid LE patient, a combined homozygous C2 and C6 deficiency was diagnosed. Almost all of our patients presented the classical clinical and immunological features of LE associated with ICD. Severe lupus with renal involvement and recurrent infections was present in half of the patients suggesting that these patients are prone to a serious management.