Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations
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Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations. / Schejbel, L; Skattum, L; Hagelberg, S; Ahlin, A; Schiller, B; Berg, Steve; Genel, F; Truedsson, L; Garred, P.
I: Genes and Immunity, Bind 12, Nr. 8, 2011, s. 626-34.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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T1 - Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations
AU - Schejbel, L
AU - Skattum, L
AU - Hagelberg, S
AU - Ahlin, A
AU - Schiller, B
AU - Berg, Steve
AU - Genel, F
AU - Truedsson, L
AU - Garred, P
PY - 2011
Y1 - 2011
N2 - C1q is the central pattern-recognition molecule in the classical pathway of the complement system and is known to have a key role in the crossroads between adaptive and innate immunity. Hereditary C1q deficiency is a rare genetic condition strongly associated with systemic lupus erythematosus and increased susceptibility to bacterial infections. However, the clinical symptoms may vary. For long, the molecular basis of C1q deficiency was ascribed to only six different mutations. In the present report, we describe five new patients with C1q deficiency, present the 12 causative mutations described till now and review the clinical spectrum of symptoms found in patients with C1q deficiency. With the results presented here, confirmed C1q deficiency is reported in 64 patients from at least 38 families.
AB - C1q is the central pattern-recognition molecule in the classical pathway of the complement system and is known to have a key role in the crossroads between adaptive and innate immunity. Hereditary C1q deficiency is a rare genetic condition strongly associated with systemic lupus erythematosus and increased susceptibility to bacterial infections. However, the clinical symptoms may vary. For long, the molecular basis of C1q deficiency was ascribed to only six different mutations. In the present report, we describe five new patients with C1q deficiency, present the 12 causative mutations described till now and review the clinical spectrum of symptoms found in patients with C1q deficiency. With the results presented here, confirmed C1q deficiency is reported in 64 patients from at least 38 families.
U2 - http://dx.doi.org/10.1038/gene.2011.39
DO - http://dx.doi.org/10.1038/gene.2011.39
M3 - Journal article
VL - 12
SP - 626
EP - 634
JO - Genes and Immunity
JF - Genes and Immunity
SN - 1466-4879
IS - 8
ER -
ID: 40152932