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.

In: Genes and Immunity, Vol. 12, No. 8, 2011, p. 626-34.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Schejbel, L, Skattum, L, Hagelberg, S, Ahlin, A, Schiller, B, Berg, S, Genel, F, Truedsson, L & Garred, P 2011, 'Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations', Genes and Immunity, vol. 12, no. 8, pp. 626-34. https://doi.org/10.1038/gene.2011.39

APA

Schejbel, L., Skattum, L., Hagelberg, S., Ahlin, A., Schiller, B., Berg, S., Genel, F., Truedsson, L., & Garred, P. (2011). Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations. Genes and Immunity, 12(8), 626-34. https://doi.org/10.1038/gene.2011.39

Vancouver

Schejbel L, Skattum L, Hagelberg S, Ahlin A, Schiller B, Berg S et al. Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations. Genes and Immunity. 2011;12(8):626-34. https://doi.org/10.1038/gene.2011.39

Author

Schejbel, L ; Skattum, L ; Hagelberg, S ; Ahlin, A ; Schiller, B ; Berg, Steve ; Genel, F ; Truedsson, L ; Garred, P. / Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations. In: Genes and Immunity. 2011 ; Vol. 12, No. 8. pp. 626-34.

Bibtex

@article{010294b894134336b865a316666e495a,
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.",
author = "L Schejbel and L Skattum and S Hagelberg and A Ahlin and B Schiller and Steve Berg and F Genel and L Truedsson and P Garred",
year = "2011",
doi = "http://dx.doi.org/10.1038/gene.2011.39",
language = "English",
volume = "12",
pages = "626--34",
journal = "Genes and Immunity",
issn = "1466-4879",
publisher = "nature publishing group",
number = "8",

}

RIS

TY - JOUR

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