The Turkish Journal of Pediatrics
2010 , Vol 52 , Num 2
Hereditary C1q Deficiency: A New Family with C1qA Deficiency
Divisions of 1Immunology and 2Nephrology, Department of Pediatrics, and Departments
of 3Pathology, and 4Dermatology, Hacettepe University Faculty of Medicine, Ankara,
Turkey
Hereditary deficiency of complement component C1q is a rare genetic disorder
with susceptibility to recurrent infections with polysaccharide-containing
encapsulated microorganisms and a high prevalence of autoimmune diseases,
most often systemic lupus erythematosus (SLE). Here, we report a 29-
month-old boy who presented with facial rash and history of early death
of a sibling with infections, who was found to have a selective deficiency
of C1q. The facial rash was composed of patchy erythematous plaques and
centrally hypopigmented macules and desquamation. Two siblings had died
of severe bacterial infections and his uncle had died of meningitis. Molecular
study disclosed a homozygous point mutation in the C1qA chain gene. Five
members of the family, including the parents and three healthy siblings, were
heterozygous for this mutation.
Keywords :
C1q deficiency, C1qA chain, infection, systemic lupus erythematosus.