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The Turkish Journal of Pediatrics 2010; 52: 184-186 Case Hereditary C1q deficiency: a new family with C1qA deficiency Çağman Sun-Tan1, Tuba Turul Özgür1, Gamze Kılınç1, Rezan Topaloğlu2, Özay Gököz3, Sibel Ersoy-Evans4, Özden Sanal1 Divisions of 1Immunology and 2Nephrology, Department of Pediatrics, and Departments of 3Pathology, and 4Dermatology, Hacettepe University Faculty of Medicine, Ankara, Turkey SUMMARY: Sun-Tan Ç, Turul-Özgür T, Kılınç G, Topaloğlu R, Gököz Ö, Ersoy-Evans S, Sanal Ö. Hereditary C1q deficiency: a new family with C1qA deficiency. Turk J Pediatr 2010; 52: 184-186. 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. Key words: C1q deficiency, C1qA chain, infection, systemic lupus erythematosus. The complement system is a group of plasma whereas two siblings and an uncle had died and cell surface proteins acting in the innate of severe infections. immune system. It not only contributes to clearance of immune complexes and bacteria Case Report via adherence, opsonization and microbial A 29-month-old boy was referred to Hacettepe lysis, but also induces cellular and humoral University Children’s Hospital with rash and immune response producing anaphylatoxins desquamation on his face. Family history and chemotactic factors. The complement revealed that the parents were consanguineous component C1q initiates the classical pathway and two siblings had died of infections (Fig. 1). of complement activation by binding to immune A brother experienced pneumococcal meningitis complexes1-3. Deficiency of the complement at the age of four years, and a few weeks later C1q is a rare genetic disorder with susceptibility he died with a clinical picture of sepsis, and a to recurrent infections with encapsulated sister who had undetectable total complement microorganisms and a high prevalence of hemolytic activity (CH50) died of sepsis a
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