Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations

L Schejbel; L Skattum; S Hagelberg; A Ahlin; B Schiller; Steve Berg; F Genel; L Truedsson; P Garred

doi:10.1038/gene.2011.39

Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations

L Schejbel, L Skattum, S Hagelberg, A Ahlin, B Schiller, Steve Berg, F Genel, L Truedsson, P Garred

64 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Genes and Immunity
Volume	12
Issue number	8
Pages (from-to)	626-34
Number of pages	9
ISSN	1466-4879
DOIs	https://doi.org/10.1038/gene.2011.39
Publication status	Published - Dec 2011

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title = "Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations",

abstract = "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.",

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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 - 2011/12

Y1 - 2011/12

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.

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DO - 10.1038/gene.2011.39

M3 - Journal article

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VL - 12

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EP - 634

JO - Genes and Immunity

JF - Genes and Immunity

IS - 8

ER -

Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations

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