Hereditary C1q deficiency: a new family with C1qA deficiency
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...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2010-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/4970 |
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| author | Cağman Sun-Tan Tuba Turul Ozgür Gamze Kilinç Rezan Topaloğlu Ozay Gököz Sibel Ersoy-Evans Ozden Sanal |
| author_facet | Cağman Sun-Tan Tuba Turul Ozgür Gamze Kilinç Rezan Topaloğlu Ozay Gököz Sibel Ersoy-Evans Ozden Sanal |
| author_sort | Cağman Sun-Tan |
| collection | DOAJ |
| description |
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.
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| format | Article |
| id | doaj-art-d5e1732b78e842a3a6f3f0f1ee743f04 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2010-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-d5e1732b78e842a3a6f3f0f1ee743f042025-08-20T02:55:24ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212010-04-01522Hereditary C1q deficiency: a new family with C1qA deficiencyCağman Sun-Tan0Tuba Turul OzgürGamze KilinçRezan TopaloğluOzay GöközSibel Ersoy-EvansOzden SanalDivision of Immunology, Department of Pediatrics, 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. https://turkjpediatr.org/article/view/4970 |
| spellingShingle | Cağman Sun-Tan Tuba Turul Ozgür Gamze Kilinç Rezan Topaloğlu Ozay Gököz Sibel Ersoy-Evans Ozden Sanal Hereditary C1q deficiency: a new family with C1qA deficiency The Turkish Journal of Pediatrics |
| title | Hereditary C1q deficiency: a new family with C1qA deficiency |
| title_full | Hereditary C1q deficiency: a new family with C1qA deficiency |
| title_fullStr | Hereditary C1q deficiency: a new family with C1qA deficiency |
| title_full_unstemmed | Hereditary C1q deficiency: a new family with C1qA deficiency |
| title_short | Hereditary C1q deficiency: a new family with C1qA deficiency |
| title_sort | hereditary c1q deficiency a new family with c1qa deficiency |
| url | https://turkjpediatr.org/article/view/4970 |
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