C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations

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C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations. / Marquart, Hanne Vibeke; Schejbel, Lone; Sjöholm, Anders; Mårtensson, Ulla; Nielsen, Susan; Koch, Anders; Svejgaard, Arne; Garred, Peter.

In: Clinical Immunology, Vol. 124, No. 1, 2007, p. 33-40.

Research output: Contribution to journalArticle

Harvard

Marquart, HV, Schejbel, L, Sjöholm, A, Mårtensson, U, Nielsen, S, Koch, A, Svejgaard, A & Garred, P 2007, 'C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations', Clinical Immunology, vol. 124, no. 1, pp. 33-40. https://doi.org/10.1016/j.clim.2007.03.547

APA

Marquart, H. V., Schejbel, L., Sjöholm, A., Mårtensson, U., Nielsen, S., Koch, A., ... Garred, P. (2007). C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations. Clinical Immunology, 124(1), 33-40. https://doi.org/10.1016/j.clim.2007.03.547

CBE

Marquart HV, Schejbel L, Sjöholm A, Mårtensson U, Nielsen S, Koch A, Svejgaard A, Garred P. 2007. C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations. Clinical Immunology. 124(1):33-40. https://doi.org/10.1016/j.clim.2007.03.547

MLA

Vancouver

Author

Marquart, Hanne Vibeke ; Schejbel, Lone ; Sjöholm, Anders ; Mårtensson, Ulla ; Nielsen, Susan ; Koch, Anders ; Svejgaard, Arne ; Garred, Peter. / C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations. In: Clinical Immunology. 2007 ; Vol. 124, No. 1. pp. 33-40.

RIS

TY - JOUR

T1 - C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations

AU - Marquart, Hanne Vibeke

AU - Schejbel, Lone

AU - Sjöholm, Anders

AU - Mårtensson, Ulla

AU - Nielsen, Susan

AU - Koch, Anders

AU - Svejgaard, Arne

AU - Garred, Peter

PY - 2007

Y1 - 2007

N2 - C1q deficiency is a rare condition associated with a systemic lupus erythematosus (SLE)-like syndrome and recurrent infections. Here we present the molecular basis behind C1q deficiency in three sisters of Inuit origin. Initial examination for complement deficiency showed no function of the classical complement activation pathway in the patients; the lectin and alternative pathways were intact. No C1q or tow molecular weight Clq was detected in sera and no anti-C1q autoantibodies were found. Sequencing of the C1q genes revealed a novel missense mutation (Gly-Arg) in codon 217 of the B chain. All sisters were homozygous for the mutation: both parents were heterozygous. None of 100 healthy controls carried the mutation. Our findings define a third class of molecular mechanisms behind C1q deficiency, where missense mutations cause a lack of detectable C1q-antigen in serum. (c) 2007 Elsevier Inc. ALL rights reserved.

AB - C1q deficiency is a rare condition associated with a systemic lupus erythematosus (SLE)-like syndrome and recurrent infections. Here we present the molecular basis behind C1q deficiency in three sisters of Inuit origin. Initial examination for complement deficiency showed no function of the classical complement activation pathway in the patients; the lectin and alternative pathways were intact. No C1q or tow molecular weight Clq was detected in sera and no anti-C1q autoantibodies were found. Sequencing of the C1q genes revealed a novel missense mutation (Gly-Arg) in codon 217 of the B chain. All sisters were homozygous for the mutation: both parents were heterozygous. None of 100 healthy controls carried the mutation. Our findings define a third class of molecular mechanisms behind C1q deficiency, where missense mutations cause a lack of detectable C1q-antigen in serum. (c) 2007 Elsevier Inc. ALL rights reserved.

KW - autoimmunity

KW - primary immunodeficiency

KW - mutation

KW - classical pathway

KW - infections

KW - SLE

KW - C1q deficiency

KW - complement

U2 - 10.1016/j.clim.2007.03.547

DO - 10.1016/j.clim.2007.03.547

M3 - Article

VL - 124

SP - 33

EP - 40

JO - Clinical Immunology

T2 - Clinical Immunology

JF - Clinical Immunology

SN - 1521-6616

IS - 1

ER -